The UMD-APC mutations database
Variations with a biological significance = UV

    Request ID: 636752272

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
295C>T	c.295C>T	3		p.Arg99Trp		UV	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4235 SO_-1303G00547G00547 UV - 71 4355 SO_-1303G01158G01158 UV - 71 4633 SO_-2833G02677G02677 UV - 71 4648 SO_-2833G02786G02786 UV - 71 5049 SO_-1303G05168G05168 UV - 71 5521 7_-1303ILP0510837E050738 UV - 7
311C>T	c.311C>T	3		p.Ser104Leu		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4039 7_10478911034E091193 UV - 7
449A>T	c.449A>T	4		p.Lys150Ile		UV	French MMR network	25/02/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2744 19_13980---13980.001 UV - 19 5253 SO_-4478G06607G06607 UV - 71
477C>T	c.477C>T	4		p.Tyr159Tyr		UV	French MMR network	25/02/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2351 4_26034---27006 UV - 4 2352 4_26034---28988 UV - 4 2353 4_26034---26034 UV - 4 2354 4_26034---27521 UV - 4 2355 4_26034---27522 UV - 4
607C>G	c.607C>G	5		p.Gln203Glu		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5807 19_7899---7899.001 UV - 19 2552 10_APC-093---1059P UV - 10 2866 19_18991---18991.001 UV - 19 2867 19_18991---18991.001 UV - 19
688C>T	c.688C>T	6		p.Arg230Cys		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2700 10_APC-083---980P UV - 10
532_729dup	c.532_729dup	7		p.Phe178_Glu243dup		UV	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5804 37_P13.20-E23262 UV - 37
848G>A	c.848G>A	8		p.Arg283Gln		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3104 33_PSL2114---08-1820, UV - 33
922C>G	c.922C>G	8		p.Leu308Val		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2558 10_APC-074---860P UV - 10
933G>C	c.933G>C	8		p.Lys311Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4621 SO_-2800G02643G02643 UV - 71
1139G>A	c.1139G>A	9		p.Arg380Gln		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2444 10_------2065P UV - 10
1175A>T	c.1175A>T	9		p.His392Leu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4168 SO_-1734G00215G00215 UV - 71
1240C>T	c.1240C>T	9		p.Arg414Cys		UV	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2698 10_APC-115---1521P UV - 10 3504 37_P03.08195819580 UV - 37 3505 37_P08.26777572130,14786 UV - 37 5337 SO_-4974G07543G07543 UV - 71 5467 SO_-5722G08978G08978 UV - 71
1242C>T	c.1242C>T	9		p.Arg414Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4700 SO_-3064G03154G03154 UV - 71
1266G>T	c.1266G>T	9		p.Glu422Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2554 10_APC-075---890P UV - 10
1292T>G	c.1292T>G	9		p.Met431Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5820 7_3669G05928G05928 UV - 7
1406T>C	c.1406T>C	10		p.Leu469Pro	ASEF binding domain ARM1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3085 20_1876-01---6293 UV - 20
1440A>C	c.1440A>C	11		p.Gln480His	ASEF binding domain ARM1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2147 4_35131---35131 UV - 4
1548G>A	c.1548G>A	11		p.Lys516Lys	ASEF binding domain ARM2	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2137 4_40666---40666 UV - 4 4581 SO_-2655G02308G02308 UV - 71
1548G>T	c.1548G>T	11		p.Lys516Asn	ASEF binding domain ARM2	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3780 SO_-62730823082 UV - 71
1561_1563delTCT	c.1561_1563delTCT	12		p.Ser521del	ASEF binding domain ARM2	UV	French MMR network	25/02/15	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2194 4_20234---20935 UV - 4 2195 4_20234---31181 UV - 4 2196 4_20234---42398 UV - 4 2197 4_20234---20234 UV - 4 3304 37_P02.031179--- UV - 37 3305 37_P02.033399--- UV - 37 3922 SO_-112584288428 UV - 71 3923 SO_-112584308430 UV - 71 4486 SO_-572G01655G01655 UV - 71 4527 SO_-572G01864G01864 UV - 71 4528 SO_-572G01865G01865 UV - 71 4749 SO_-572G03529G03529 UV - 71 4783 SO_-3563G03848G03848 UV - 71 4784 SO_-3563G03849G03849 UV - 71 4785 SO_-3563G03851G03851 UV - 71 4954 SO_-1125G04685G04685 UV - 71 5015 SO_-1125G04873G04873 UV - 71 5202 SO_-4042G05950G05950 UV - 71
1855A>G	c.1855A>G	14		p.Thr619Ala	ASEF binding domain ARM4	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5731 71_-2126G00894G00894 UV - 71
1940C>G	c.1940C>G	14		p.Ala647Gly	ASEF binding domain ARM5	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4447 SO_-438G01589G01589 UV - 71
1957A>T	c.1957A>T	14-15		p.Arg653Trp	ASEF binding domain ARM5	UV	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5777 37_P13.30-E24054146355 UV - 37 4041 7_6475911260E091607 UV - 7 4083 7_64751011852E101680 UV - 7 4086 7_64751011972E101813 UV - 7 5585 7_-6206ILP0610342E060301 UV - 7 5657 7_-6206ILP0710249E070566 UV - 7 5671 7_-6206ILP0710460E070702 UV - 7 5684 7_-6206ILP0710924E071118 UV - 7 5689 7_-6206ILP0711078E071213 UV - 7
1958G>T	c.1958G>T	14-15		p.Arg653Met	ASEF binding domain ARM5	UV	French MMR network	25/02/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4199 SO_-1068G00384G00384 UV - 71 4331 SO_-1068G01041G01041 UV - 71 5444 SO_-1068G08768G08768 UV - 71
1972G>C	c.1972G>C	15		p.Glu658Gln	ASEF binding domain ARM5	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2758 19_14669---14669.001 UV - 19 2759 19_14669---14669.001 UV - 19
2222A>G	c.2222A>G	15		p.Asn741Ser	ASEF binding domain ARM7	UV	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4642 SO_-2865G02739G02739 UV - 71 5291 SO_-2865G06999G06999 UV - 71 5319 SO_-2865G07314G07314 UV - 71 5320 SO_-2865G07315G07315 UV - 71 5364 SO_-2865G07724G07724 UV - 71 5370 SO_-2865G07781G07781 UV - 71
2237G>T	c.2237G>T	15		p.Gly746Val	ASEF binding domain ARM7	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3091 20_1192-01---3863 UV - 20
2322C>T	c.2322C>T	15		p.Asp774Asp		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2268 4_31499---31499 UV - 4 2868 19_20730---20730-001 UV - 19 2869 19_12710---12710.001 UV - 19 2870 19_12710---12710.001 UV - 19
2628A>G	c.2628A>G	15		p.Arg876Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2446 10_APC-058---670P UV - 10
2837C>T	c.2837C>T	15		p.Thr946Ile		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2442 10_APC-076---886P UV - 10
2866T>C	c.2866T>C	15		p.Tyr956His		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3106 33_PSL1537---08-273 UV - 33
2913T>C	c.2913T>C	15		p.Asp971Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5821 33_PSL 695---06-854 UV - 33
2957A>G	c.2957A>G	15		p.Tyr986Cys		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3779 SO_-53229242924 UV - 71 4474 SO_-532G01637G01637 UV - 71
3076A>C	c.3076A>C	15		p.Asn1026His	Beta-catenin binding domain 1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4091 7_126201012399E102145 UV - 7
3402C>A	c.3402C>A	15		p.Asp1134Glu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2551 10_APC-063---724P UV - 10
3472_3474delAGA	c.3472_3474delAGA	15		p.Arg1158del	Beta-catenin binding domain 3	UV	French MMR network	25/02/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2198 4_14325---14325 UV - 4 2199 4_14325---43402 UV - 4 2200 4_14325---45442 UV - 4 2201 4_14325---45443 UV - 4 3087 20_0910-01---2845 UV - 20
3662C>A	c.3662C>A	15		p.Pro1221His		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2148 4_23882---23882 UV - 4
3796G>T	c.3796G>T	15		p.Asp1266Tyr	Beta-catenin degradation domai	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3223 33_PSL2695---09-1302 UV - 33
4141C>A	c.4141C>A	15		p.Pro1381Thr	Beta-catenin degradation domai	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3258 37_P05.032940--- UV - 37
4212C>A	c.4212C>A	15		p.Ser1404Ser		UV	French MMR network	9/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5746 37_P12.27-E2108921089 UV - 37
4256G>A	c.4256G>A	15		p.Ser1419Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2729 19_12236---12236.001 UV - 19
4336G>A	c.4336G>A	15		p.Ala1446Thr		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2431 10_APC-095---1116P UV - 10
4360A>G	c.4360A>G	15		p.Lys1454Glu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2865 19_11618---11618.001 UV - 19
4372C>T	c.4372C>T	15		p.Pro1458Ser		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3095 20_1192-01---3863 UV - 20 3096 20_1192-08---7793 UV - 20
4374T>A	c.4374T>A	15		p.Pro1458Pro		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2771 19_11268---11268.001 UV - 19
4395T>A	c.4395T>A	15		p.Ser1465Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2143 4_35826---35826 UV - 4
4420G>A	c.4420G>A	15		p.Ala1474Thr		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3983 7_9188811289E081456 UV - 7
4594G>A	c.4594G>A	15		p.Asp1532Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5336 SO_-4980G07533G07533 UV - 71
4706A>G	c.4706A>G	15		p.Asp1569Gly	Axin binding domain 1	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3176 33_PSL416---06-126 UV - 33 3177 33_PSL416---08-1909 UV - 33
4709A>G	c.4709A>G	15		p.Asp1570Gly	Axin binding domain 1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4068 7_98141010852E101136 UV - 7
4893T>C	c.4893T>C	15		p.Ser1631Ser		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2738 19_11618---11618.001 UV - 19 2739 19_11618---11618.001 UV - 19
4905G>A	c.4905G>A	15		p.Gly1635Gly		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3396 37_P09.13909679492 UV - 37
4965A>G	c.4965A>G	15		p.Thr1655Thr	Beta-catenin degradation domai	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3102 33_PSL1537---08-273 UV - 33
5009C>T	c.5009C>T	15		p.Ala1670Val		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2880 19_13614---13614.001 UV - 19 2881 19_17991---17991.001 UV - 19
5026A>G	c.5026A>G	15		p.Arg1676Gly		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3175 33_PSL482---06-278 UV - 33
5265G>A	c.5265G>A	15		p.Ala1755Ala		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2871 19_15551---15551.001 UV - 19 2872 19_21943---21943-001 UV - 19 2873 19_15551---15551.001 UV - 19 2874 19_19912---19912.001 UV - 19
5304G>A	c.5304G>A	15		p.Lys1768Lys		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2428 10_APC-056---644P UV - 10
5354_5359del	c.5354_5359del	15		p.Tyr1785_Thr1787delinsSer		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4608 SO_-157G02570G02570 UV - 71
5365G>A	c.5365G>A	15		p.Val1789Ile		UV	French MMR network	25/02/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2745 19_22319---22319-001 UV - 19 2746 19_22319---22319-001 UV - 19
5410G>C	c.5410G>C	15		p.Val1804Leu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2149 4_35131---35131 UV - 4
5451A>G	c.5451A>G	15		p.Lys1817Lys		UV	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5846 10_------3175 P UV - 10
5572C>A	c.5572C>A	15		p.Arg1858Arg	Beta-catenin degradation domai	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2433 10_APC-090---1011P UV - 10 3265 37_P08.34-E8338RNA UV - 37
5879C>T	c.5879C>T	15		p.Pro1960Leu	Beta-catenin degradation domai	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2772 19_19205---19205.001 UV - 19 3109 33_PSL2575---09-916 UV - 33
6108T>A	c.6108T>A	15		p.Asp2036Glu	Axin binding domain 3	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3089 20_1876-01---6293 UV - 20
6173G>A	c.6173G>A	15		p.Gly2058Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5768 37_P13.42-E24760149144 UV - 37
6363_6365dup	c.6363_6365dup	15		p.Ala2122dup		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3423 37_F07.128644261420 UV - 37
6446A>C	c.6446A>C	15		p.His2149Pro		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2445 10_APC-067---760p UV - 10
6679G>T	c.6679G>T	15		p.Gly2227Cys	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5834 19_34833483-0013483-001 UV - 19
6680G>T	c.6680G>T	15		p.Gly2227Val	Microtubule binding domain (ba	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2879 19_3483---3483.001 UV - 19
6821C>T	c.6821C>T	15		p.Ala2274Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5802 19_23920---23920.001 UV - 19 2557 10_APC-057---657P UV - 10 3413 37_P02.041180--- UV - 37 5754 37_P12.1414781131235 UV - 37
6857C>T	c.6857C>T	15		p.Ala2286Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5763 37_P13.29-E20953146399 UV - 37
6921G>A	c.6921G>A	15		p.Ser2307Ser	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2981 19_19707---19707.001 UV - 19
6947C>T	c.6947C>T	15		p.Pro2316Leu	Microtubule binding domain (ba	UV	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5853 10_------3266 P UV - 10
7109G>T	c.7109G>T	15		p.Gly2370Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2882 19_12252---12252.001 UV - 19 2883 19_18266---18266.001 UV - 19
7290T>C	c.7290T>C	15		p.Asp2430Asp	Microtubule binding domain (ba	UV	French MMR network	4/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5815 19_26024---26024-001 UV - 19
7329C>T	c.7329C>T	15		p.Phe2443Phe	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2702 10_APC-082---941P UV - 10
7399C>A	c.7399C>A	15		p.Pro2467Thr	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3101 33_PSL482---06-278 UV - 33
7553A>G	c.7553A>G	15		p.Asn2518Ser	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5755 19_22079---22079-001 UV - 19
7720C>A	c.7720C>A	15		p.Leu2574Ile	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2443 10_APC-104---1287P UV - 10
8360A>G	c.8360A>G	15		p.Asn2787Ser	EB1 & hDLG binding domain (C-t	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2144 4_18797---18797 UV - 4
8445G>T	c.8445G>T	15		p.Lys2815Asn	EB1 & hDLG binding domain (C-t	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2407 4_27151---27151 UV - 4