The UMD-MSH2 mutations database
Most recent 25 variations with a validated classification

    Request ID: 5118133115

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
291delG	c.291delG	2		p.Gln97HisfsX77	Mismatch binding	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3251 8_454648370808-056141 Causal - 8
IVS2-46delC (67-46delC)	c.IVS2-46delC (c.367-46delC)	3			Mismatch binding	UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3201 2_DDM118142136215019468 UV - 2
449_522del	c.449_522del	3		p.Val150AlafsX3	Connector	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3239 19_1908919089-00119089-001 Causal - 19
547C>T	c.547C>T	3		p.Gln183X	Connector	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3252 8_479399216108-758141 Causal - 8
	c.636_645+13delinsT	3		p.0	Connector	Causal	French MMR network	25/09/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3247 8_467499964008-962051 Causal - 8 3253 8_467499002408-941331 Causal - 8
643C>T	c.643C>T	3		p.Gln215X	Connector	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3218 20_20-43654365-01--- Causal - 20
IVS3+35C>T (45+35C>T)	c.IVS3+35C>T (c.645+35C>T)	3				UV	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3200 2_DDM1356243058215089465 UV - 2
646_1076del	c.646_1076del	4		p.Ile217GlufsX28	Connector	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3219 20_20-51885188-01--- Causal - 20
806_80713s13	c.806_807ins13	5		p.Leu270ValfsX18	EXO1 stabilization	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3179 17_121541212576001--- Causal - 17
913G>A	c.913G>A	5		p.Ala305Thr	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3233 19_2746127461-00127461-001 UV - 19
999_1000insTAAG	c.999_1000insTAAG	6		p.Lys334X	Lever	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2662 SO_-4894---G07411 Causal - 71
1025T>A	c.1025T>A	6		p.Val342Asp	Lever	UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3079 5_20137152013005662AAI443 UV - 5
1050C>T	c.1050C>T	6		p.Leu350Leu	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3234 19_2856428564-00128564-001 UV - 19
1077_1077delinsAG	c.1077_1077delinsAG	6-7			Lever	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2989 8_422118776908-923031NDA Causal - 8
IVS6-10T>A (77-10T>A)	c.IVS6-10T>A (c.1077-10T>A)	6-7				UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3213 20_20-27472747-01--- UV - 20
1126_1127delTT	c.1126_1127delTT	7		p.Leu376ThrfsX12	Lever	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3224 4_CH00066357265415 Causal - 4
1498G>C	c.1498G>C	9		p.Ala500Pro	Clamp	UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3093 5_20143282013005107AAJ225 UV - 5
1674_1677delinsCTTTT	c.1674_1677delinsCTTTT	11			Lever	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3228 19_2772927729-00127729-001 Causal - 19
1753_1756delTCTT	c.1753_1756delTCTT	11		p.Ser585GlnfsX4	Lever	Causal	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3207 2_02-OCN1331642498215047440 Causal - 2
1847C>G	c.1847C>G	12		p.Pro616Arg	EXO1 interaction	UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3105 28346_28346-00128346-001 UV - 19
IVS13-14A>C (211-14A>C)	c.IVS13-14A>C (c.2211-14A>C)	13-14				UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3256 8_466718967908-367141 UV - 8
2740G>T	c.2740G>T	16		p.Glu914X	MSH3/MSH6 interaction	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3250 8_473919301708-536041 Causal - 8