Variant ID: 1-45800083-G-A

NM_012222.2(MUTYH):c.137C>T;(p.Ala46Val)

This variant was identified in 1 publication




Publications:


Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
MS DeRycke, S Gunawardena, JR Balcom, AM Pickart, LA Waltman, AJ French, S McDonnell, SM Riska, ZC Fogarty, MC Larson, S Middha, BW Eckloff, YW Asmann, MJ Ferber, RW Haile, S Gallinger, M Clendenning, C Rosty, AK Win, DD Buchanan, JL Hopper, PA Newcomb, L Le Marchand, EL Goode, NM Lindor, SN Thibodeau
Publication Date: 2017-09

Variant appearance in text: MYH: 137C>T
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000355498.2 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000372098.3 c.137C>T p.Ala46Val missense_variant 2/16 -
ENST00000372100.5 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000372104.1 c.95C>T p.Ala32Val missense_variant 3/17 -
ENST00000372110.3 c.137C>T p.Ala46Val missense_variant 2/16 -
ENST00000372115.3 c.137C>T p.Ala46Val missense_variant 2/16 -
ENST00000412971.1 c.37-1577C>T - intron_variant - 1/6
ENST00000435155.1 c.95C>T p.Ala32Val missense_variant 2/10 -
ENST00000448481.1 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000450313.1 c.137C>T p.Ala46Val missense_variant 2/16 -
ENST00000456914.2 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000461495.1 c.137C>T p.Ala46Val missense_variant,NMD_transcript_variant 2/10 -
ENST00000462387.1 n.315C>T - non_coding_transcript_exon_variant 2/3 -
ENST00000467940.1 c.*15C>T - 3_prime_UTR_variant,NMD_transcript_variant 2/10 -
ENST00000470256.1 c.95C>T p.Ala32Val missense_variant,NMD_transcript_variant 2/9 -
ENST00000474703.1 n.217C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000475516.1 c.95C>T p.Ala32Val missense_variant,NMD_transcript_variant 2/16 -
ENST00000476789.1 n.315C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000479746.2 n.158C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000481139.1 n.298C>T - non_coding_transcript_exon_variant 2/4 -
ENST00000481571.1 c.137C>T p.Ala46Val missense_variant,NMD_transcript_variant 2/16 -
ENST00000483127.1 c.113C>T p.Ala38Val missense_variant 3/4 -
ENST00000483642.1 n.276C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000485484.1 n.145C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000488731.2 c.95C>T p.Ala32Val missense_variant 2/7 -
ENST00000492494.1 n.158C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000525160.1 c.137C>T p.Ala46Val missense_variant,NMD_transcript_variant 2/7 -
ENST00000528013.2 c.95C>T p.Ala32Val missense_variant 2/16 -
ENST00000528332.2 c.137C>T p.Ala46Val missense_variant 2/7 -
ENST00000529984.1 c.95C>T p.Ala32Val missense_variant 2/7 -
ENST00000531105.1 c.95C>T p.Ala32Val missense_variant 2/3 -
ENST00000533178.1 c.101C>T p.Ala34Val missense_variant,NMD_transcript_variant 1/10 -
ENST00000534453.1 n.361C>T - non_coding_transcript_exon_variant 2/2 -
NM_001048171.1 c.137C>T p.Ala46Val missense_variant 2/16 -
NM_001048172.1 c.95C>T p.Ala32Val missense_variant 2/16 -
NM_001048173.1 c.95C>T p.Ala32Val missense_variant 2/16 -
NM_001048174.1 c.95C>T p.Ala32Val missense_variant 2/16 -
NM_001128425.1 c.137C>T p.Ala46Val missense_variant 2/16 -
NM_001293190.1 c.137C>T p.Ala46Val missense_variant 2/16 -
NM_001293191.1 c.95C>T p.Ala32Val missense_variant 2/16 -
NM_001293192.1 c.-118C>T - 5_prime_UTR_variant 2/16 -
NM_001293195.1 c.95C>T p.Ala32Val missense_variant 3/17 -
NM_001293196.1 c.-118C>T - 5_prime_UTR_variant 2/16 -
NM_001350650.1 c.-177C>T - 5_prime_UTR_variant 2/15 -
NM_001350651.1 c.-113C>T - 5_prime_UTR_variant 2/15 -
NM_012222.2 c.137C>T p.Ala46Val missense_variant 2/16 -
NR_146882.1 n.353C>T - non_coding_transcript_exon_variant 2/17 -
NR_146883.1 n.241C>T - non_coding_transcript_exon_variant 2/16 -