Variant ID: 1-45798461-G-A

NM_012222.2(MUTYH):c.541C>T;(p.Arg181Trp)

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: 541C>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.469C>T p.Arg157Trp missense_variant 7/16 -
ENST00000355498.2 c.466C>T p.Arg156Trp missense_variant 7/16 -
ENST00000372098.3 c.541C>T p.Arg181Trp missense_variant 7/16 -
ENST00000372100.5 c.499C>T p.Arg167Trp missense_variant 7/16 -
ENST00000372104.1 c.466C>T p.Arg156Trp missense_variant 8/17 -
ENST00000372110.3 c.511C>T p.Arg171Trp missense_variant 7/16 -
ENST00000372115.3 c.508C>T p.Arg170Trp missense_variant 7/16 -
ENST00000412971.1 c.82C>T p.Arg28Trp missense_variant 2/7 -
ENST00000435155.1 c.499C>T p.Arg167Trp missense_variant 7/10 -
ENST00000448481.1 c.499C>T p.Arg167Trp missense_variant 7/16 -
ENST00000450313.1 c.550C>T p.Arg184Trp missense_variant 7/16 -
ENST00000456914.2 c.466C>T p.Arg156Trp missense_variant 7/16 -
ENST00000461495.1 c.*205C>T - 3_prime_UTR_variant,NMD_transcript_variant 6/10 -
ENST00000462388.1 n.157C>T - non_coding_transcript_exon_variant 1/5 -
ENST00000467940.1 c.*389C>T - 3_prime_UTR_variant,NMD_transcript_variant 7/10 -
ENST00000470256.1 c.353C>T p.Pro118Leu missense_variant,NMD_transcript_variant 5/9 -
ENST00000475516.1 c.*279C>T - 3_prime_UTR_variant,NMD_transcript_variant 7/16 -
ENST00000476789.1 n.906C>T - non_coding_transcript_exon_variant 5/5 -
ENST00000478796.1 n.453C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000479746.2 n.749C>T - non_coding_transcript_exon_variant 5/5 -
ENST00000481139.1 n.939C>T - non_coding_transcript_exon_variant 4/4 -
ENST00000481571.1 c.*279C>T - 3_prime_UTR_variant,NMD_transcript_variant 7/16 -
ENST00000483642.1 n.981C>T - non_coding_transcript_exon_variant 4/5 -
ENST00000485484.1 n.767C>T - non_coding_transcript_exon_variant 5/5 -
ENST00000488731.2 c.161C>T p.Pro54Leu missense_variant 3/7 -
ENST00000492494.1 n.863C>T - non_coding_transcript_exon_variant 4/5 -
ENST00000525160.1 c.*117C>T - 3_prime_UTR_variant,NMD_transcript_variant 5/7 -
ENST00000528013.2 c.508C>T p.Arg170Trp missense_variant 7/16 -
ENST00000528332.2 c.203C>T p.Pro68Leu missense_variant 3/7 -
ENST00000529984.1 c.161C>T p.Pro54Leu missense_variant 3/7 -
ENST00000531105.1 c.115+1602C>T - intron_variant - 2/2
ENST00000533178.1 c.122-102C>T - intron_variant,NMD_transcript_variant - 1/9
NM_001048171.1 c.508C>T p.Arg170Trp missense_variant 7/16 -
NM_001048172.1 c.469C>T p.Arg157Trp missense_variant 7/16 -
NM_001048173.1 c.466C>T p.Arg156Trp missense_variant 7/16 -
NM_001048174.1 c.466C>T p.Arg156Trp missense_variant 7/16 -
NM_001128425.1 c.550C>T p.Arg184Trp missense_variant 7/16 -
NM_001293190.1 c.511C>T p.Arg171Trp missense_variant 7/16 -
NM_001293191.1 c.499C>T p.Arg167Trp missense_variant 7/16 -
NM_001293192.1 c.190C>T p.Arg64Trp missense_variant 7/16 -
NM_001293195.1 c.466C>T p.Arg156Trp missense_variant 8/17 -
NM_001293196.1 c.190C>T p.Arg64Trp missense_variant 7/16 -
NM_001350650.1 c.121C>T p.Arg41Trp missense_variant 6/15 -
NM_001350651.1 c.121C>T p.Arg41Trp missense_variant 6/15 -
NM_012222.2 c.541C>T p.Arg181Trp missense_variant 7/16 -
NR_146882.1 n.724C>T - non_coding_transcript_exon_variant 7/17 -
NR_146883.1 n.538C>T - non_coding_transcript_exon_variant 6/16 -