The UMD-MLH1 mutations database
Mutation c.IVS16+63T>C (c.1896+63T>C)

     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)

Sample ID	MLH1	MSH2	MSH6	MUTYH	APC
2_02DDM723428282211094415	-	-	-	-	-
31_H1551H15511H15511A	-	-	-	-	-

Complementary data about this mutation

Analysis	Result	Date	Origin	PMID/dbSNP
Clinical phenotype	Multiple late-onset Lynch-related cancers (family H1551)	9/12/13	31 (Montpellier)	---
MMR function in tumor cells	MSI-H / MLH1-MSH2+MSH6+ (H1551-1)	9/12/13	31 (Montpellier)	---
Co-occurrence	MSH6: c.660A>C; p.Glu220Asp (H1551-1)	9/12/13	31 (Montpellier)	---
Co-occurrence	MSH6: c.1864A>T; p.Ile622Leu (H1551-1)	9/12/13	31 (Montpellier)	---
Clinical phenotype	Amsterdam II+ (02-DDM7234)	16/06/14	2 (Villejuif)	---
Ex vivo analysis	Splicing reporter minigene pCAS: normal splicing	30/07/15	19 (INSERM U1079-Rouen)	---

Biological significance	Date	Comment
Likely Neutral	5/08/15	---