The UMD-MSH6 mutations database
Most recent 25 variations with a validated classification

    Request ID: 6123236227

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
148T>C	c.148T>C	1		p.Trp50Arg		UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1975 4_Gr2011-72265614793 UV - 4
395A>G	c.395A>G	2		p.Gln132Arg	PWWP	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2032 37_L13.192-E25657152412 UV - 37
IVS3-74A>G (28-74A>G)	c.IVS3-74A>G (c.628-74A>G)	4				Neutral	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1954 41_HNPCC611120130005 Neutral - 41
871A>T	c.871A>T	4		p.Asn291Tyr		Likely Neutral	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2041 37_L14.21313709166713 Likely Neutral - 37
973C>T	c.973C>T	4		p.Gln325X		Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2100 8_474129315208-296041 Causal - 8
1191T>A	c.1191T>A	4		p.Tyr397X	DNA binding	Causal	French MMR network	25/09/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2098 8_4594810047108-477051 Causal - 8 2099 8_4594810047008-577051 Causal - 8 2101 8_459488591408-846131EGS Causal - 8
1417C>G	c.1417C>G	4		p.Leu473Val	Connector	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2065 2_OCN1199439157214139448 UV - 2
1573A>G	c.1573A>G	4		p.Ser525Gly	Connector	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2089 19_2746127461-00127461-001 UV - 19
1641A>C	c.1641A>C	4		p.Glu547Asp	Connector	UV	French MMR network	7/10/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2114 4_Gr2012-7035677--- UV - 4
1677C>T	c.1677C>T	4		p.Cys559Cys	Connector	UV	French MMR network	29/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2118 SO_---------- UV - 71
1720T>A	c.1720T>A	4		p.Ser574Thr	Connector	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2092 19_2934629346-00129346-001 UV - 19
1961T>C	c.1961T>C	4		p.Met654Thr	Connector	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2088 19_2729827298-00127298-001 UV - 19
3227G>A	c.3227G>A	5		p.Arg1076His	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2086 19_2618226182-00126182-001 UV - 19
3234A>G	c.3234A>G	5		p.Val1078Val	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2103 8_489069271008-384041 UV - 8
3423_3434del	c.3423_3434del	5		p.Thr1142_Arg1145del	ATP binding	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2090 19_2597025970-00225970-002 UV - 19
IVS6-7delTTTT (557-7delTTTT)	c.IVS6-7delTTTT (c.3557-7delTTTT)	7				UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1959 2_02-DDM1024836306213224443 UV - 2
3724_3726delCGT	c.3724_3726delCGT	8		p.Arg1242del	ATPase	Causal	French MMR network	23/10/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 120 4_98100_19524_290 Causal - 4 2030 37_L14.12626170160524 Causal - 37
3725G>A	c.3725G>A	8		p.Arg1242His	ATPase	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2069 2_---41326214310404 UV - 2
IVS8+21T>C (801+21T>C)	c.IVS8+21T>C (c.3801+21T>C)	8				UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2108 8_475989387208-241321 UV - 8
3848_3862del	c.3848_3862del	9		p.Ile1283_Tyr1287del	ATPase	Causal	French MMR network	7/10/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2115 4_14089327545394 Causal - 4
3940C>G	c.3940C>G	9		p.Gln1314Glu	MSH2 interaction	UV	French MMR network	25/09/15	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1974 4_JCS1409335125119 UV - 4 2109 8_459488591408-846131EGS UV - 8 2112 8_4594810047108-477051 UV - 8 2113 8_4594810047008-577051 UV - 8
3974_3976dup	c.3974_3976dup	9		p.Met1326delinsLysMet	MSH2 interaction	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2084 4_JCS1506359175463 UV - 4
3980_3983dup	c.3980_3983dup	9		p.Leu1330ValfsX12	MSH2 interaction	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1991 19_2690326903-00126903-001 Causal - 19