Variant ID: 1-45796214-G-GG

NM_012222.2(MUTYH):c.1483dup;(p.Gln495Profs*34)

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: 1483_1484insC
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.1411dup p.Gln471Profs*34 frameshift_variant 15/16 -
ENST00000355498.2 c.1408dup p.Gln470Profs*34 frameshift_variant 15/16 -
ENST00000372098.3 c.1483dup p.Gln495Profs*34 frameshift_variant 15/16 -
ENST00000372100.5 c.1441dup p.Gln481Profs*34 frameshift_variant 15/16 -
ENST00000372104.1 c.1408dup p.Gln470Profs*34 frameshift_variant 16/17 -
ENST00000372110.3 c.1453dup p.Gln485Profs*34 frameshift_variant 15/16 -
ENST00000372115.3 c.1450dup p.Gln484Profs*34 frameshift_variant 15/16 -
ENST00000448481.1 c.1441dup p.Gln481Profs*34 frameshift_variant 15/16 -
ENST00000450313.1 c.1492dup p.Gln498Profs*34 frameshift_variant 15/16 -
ENST00000456914.2 c.1408dup p.Gln470Profs*34 frameshift_variant 15/16 -
ENST00000467459.1 c.*270dup - 3_prime_UTR_variant,NMD_transcript_variant 7/8 -
ENST00000475516.1 c.*1221dup - 3_prime_UTR_variant,NMD_transcript_variant 15/16 -
ENST00000481571.1 c.*1221dup - 3_prime_UTR_variant,NMD_transcript_variant 15/16 -
ENST00000482094.1 n.729dup - non_coding_transcript_exon_variant 4/5 -
ENST00000485271.1 c.105dup p.Gln36Profs*19 frameshift_variant,NMD_transcript_variant 2/4 -
ENST00000488731.2 c.493dup p.Gln165Profs*34 frameshift_variant 6/7 -
ENST00000528013.2 c.1450dup p.Gln484Profs*34 frameshift_variant 15/16 -
ENST00000528332.2 c.535dup p.Gln179Profs*34 frameshift_variant 6/7 -
ENST00000529892.1 c.483dup p.Gln162Profs*34 frameshift_variant 5/6 -
ENST00000529984.1 c.493dup p.Gln165Profs*34 frameshift_variant 6/7 -
ENST00000531105.1 c.116-1105dup - intron_variant - 2/2
ENST00000533178.1 c.*737dup - 3_prime_UTR_variant,NMD_transcript_variant 9/10 -
NM_001048171.1 c.1450dup p.Gln484Profs*34 frameshift_variant 15/16 -
NM_001048172.1 c.1411dup p.Gln471Profs*34 frameshift_variant 15/16 -
NM_001048173.1 c.1408dup p.Gln470Profs*34 frameshift_variant 15/16 -
NM_001048174.1 c.1408dup p.Gln470Profs*34 frameshift_variant 15/16 -
NM_001128425.1 c.1492dup p.Gln498Profs*34 frameshift_variant 15/16 -
NM_001293190.1 c.1453dup p.Gln485Profs*34 frameshift_variant 15/16 -
NM_001293191.1 c.1441dup p.Gln481Profs*34 frameshift_variant 15/16 -
NM_001293192.1 c.1132dup p.Gln378Profs*34 frameshift_variant 15/16 -
NM_001293195.1 c.1408dup p.Gln470Profs*34 frameshift_variant 16/17 -
NM_001293196.1 c.1132dup p.Gln378Profs*34 frameshift_variant 15/16 -
NM_001350650.1 c.1063dup p.Gln355Profs*34 frameshift_variant 14/15 -
NM_001350651.1 c.1063dup p.Gln355Profs*34 frameshift_variant 14/15 -
NM_012222.2 c.1483dup p.Gln495Profs*34 frameshift_variant 15/16 -
NR_146882.1 n.1666dup - non_coding_transcript_exon_variant 15/17 -
NR_146883.1 n.1480dup - non_coding_transcript_exon_variant 14/16 -