The UMD-MLH1 mutations database
Most recent 25 variations with a validated classification

    Request ID: 815857391

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
3G>T	c.3G>T	1		p.Met1?		UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3052 19_2934629346-00129346-001 UV - 19
IVS1+36T>A (16+36T>A)	c.IVS1+36T>A (c.116+36T>A)	1-2				UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3049 19_2740927409-00127409-001 UV - 19
IVS2-2A>G (8-2A>G)	c.IVS2-2A>G (c.208-2A>G)	3				Causal	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3024 2_DDM1135537480213336476 Causal - 2
264dup	c.264dup	3		p.Glu89X		Causal	French MMR network	24/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3050 19_2845428454-00128454-001 Causal - 19
IVS4+61T>C (80+61T>C)	c.IVS4+61T>C (c.380+61T>C)	4-5				UV	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3025 2_OCN1199439157214139448 UV - 2
546_677del	c.546_677del	6-7		p.Tyr183_Arg226del	HhH & pseudo-HhH	Causal	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3026 2_DDM118142136215019468 Causal - 2
IVS6-18T>C (46-18T>C)	c.IVS6-18T>C (c.546-18T>C)	6-7				UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3036 20_20-50285028-01--- UV - 20
IVS6-2A>T (46-2A>T)	c.IVS6-2A>T (c.546-2A>T)	6-7				Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3042 4_CH00158358695423 Causal - 4
660T>G	c.660T>G	8		p.Phe220Leu	HhH & pseudo-HhH	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3060 8_411029128408-745041 UV - 8
738A>C	c.738A>C	9		p.Ile246Ile	MSH6 binding site	UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3005 17_131479018370001--- UV - 17
790C>T	c.790C>T	9-10		p.His264Tyr	HhH & pseudo-HhH	UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3015 5_201416119814448AAI917 UV - 5
885_1038del	c.885_1038del	10-11		p.Ser295ArgfsX21	APE1 binding site	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3039 20_20-37193719-01--- Causal - 20
IVS10-1G>C (85-1G>C)	c.IVS10-1G>C (c.885-1G>C)	10-11				Causal	French MMR network	22/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2997 14_CCS NANTES13C129113C1291 Causal - 14
931A>G	c.931A>G	11		p.Lys311Glu	APE1 binding site	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3063 8_487759896408-685341 UV - 8
1001T>C	c.1001T>C	11		p.Leu334Pro		UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3056 8_470139016808-843331 UV - 8
1228delG	c.1228delG	12		p.Ala410ProfsX81		Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3044 19_2765827658-00127658-001 Causal - 19
1324G>A	c.1324G>A	12		p.Ala442Thr		UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3017 5_20137232013005680AAI461 UV - 5
1514G>A	c.1514G>A	13		p.Ser505Asn	PCNA binding site	UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3009 17_121516216186001--- UV - 17
IVS14+43A>G (667+43A>G)	c.IVS14+43A>G (c.1667+43A>G)	14-15				UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3020 5_20140352014000135AAI667 UV - 5
1743G>T	c.1743G>T	16		p.Pro581Pro		UV	French MMR network	11/09/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3031 20_20-52625262-02--- UV - 20 3032 20_20-52625262-07--- UV - 20
IVS16+24C>T (896+24C>T)	c.IVS16+24C>T (c.1896+24C>T)	16				UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2937 31_H1865H1865-1H1865-1A UV - 31
IVS16+63T>C (896+63T>C)	c.IVS16+63T>C (c.1896+63T>C)	16				Likely Neutral	French MMR network	5/08/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2861 31_H1551H15511H15511A Likely Neutral - 31 2862 2_02DDM723428282211094415 Likely Neutral - 2