Variant ID: 1-45797166-G-A

NM_012222.2(MUTYH):c.1240C>T;(p.Arg414Cys)

This variant was identified in 2 publications




Publications:


Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Oncotarget
GHJ Chan, PY Ong, JJH Low, HL Kong, SGW Ow, DSP Tan, YW Lim, SE Lim, SC Lee
Publication Date: 2018-07-17

Variant appearance in text: MUTYH: 1240C>T; Gln414*
PubMed Link: 30093976
Variant Present in the following documents:
  • oncotarget-09-30649-s002.docx
View BVdb publication page



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: 1240C>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.1168C>T p.Arg390Cys missense_variant 13/16 -
ENST00000355498.2 c.1165C>T p.Arg389Cys missense_variant 13/16 -
ENST00000372098.3 c.1240C>T p.Arg414Cys missense_variant 13/16 -
ENST00000372100.5 c.1198C>T p.Arg400Cys missense_variant 13/16 -
ENST00000372104.1 c.1165C>T p.Arg389Cys missense_variant 14/17 -
ENST00000372110.3 c.1210C>T p.Arg404Cys missense_variant 13/16 -
ENST00000372115.3 c.1207C>T p.Arg403Cys missense_variant 13/16 -
ENST00000448481.1 c.1198C>T p.Arg400Cys missense_variant 13/16 -
ENST00000450313.1 c.1249C>T p.Arg417Cys missense_variant 13/16 -
ENST00000456914.2 c.1165C>T p.Arg389Cys missense_variant 13/16 -
ENST00000467459.1 c.*27C>T - 3_prime_UTR_variant,NMD_transcript_variant 5/8 -
ENST00000475516.1 c.*978C>T - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000481571.1 c.*978C>T - 3_prime_UTR_variant,NMD_transcript_variant 13/16 -
ENST00000482094.1 n.486C>T - non_coding_transcript_exon_variant 2/5 -
ENST00000488731.2 c.250C>T p.Arg84Cys missense_variant 4/7 -
ENST00000528013.2 c.1207C>T p.Arg403Cys missense_variant 13/16 -
ENST00000528332.2 c.292C>T p.Arg98Cys missense_variant 4/7 -
ENST00000529892.1 c.241C>T p.Arg81Cys missense_variant 3/6 -
ENST00000529984.1 c.250C>T p.Arg84Cys missense_variant 4/7 -
ENST00000531105.1 c.116-2057C>T - intron_variant - 2/2
ENST00000533178.1 c.*494C>T - 3_prime_UTR_variant,NMD_transcript_variant 7/10 -
NM_001048171.1 c.1207C>T p.Arg403Cys missense_variant 13/16 -
NM_001048172.1 c.1168C>T p.Arg390Cys missense_variant 13/16 -
NM_001048173.1 c.1165C>T p.Arg389Cys missense_variant 13/16 -
NM_001048174.1 c.1165C>T p.Arg389Cys missense_variant 13/16 -
NM_001128425.1 c.1249C>T p.Arg417Cys missense_variant 13/16 -
NM_001293190.1 c.1210C>T p.Arg404Cys missense_variant 13/16 -
NM_001293191.1 c.1198C>T p.Arg400Cys missense_variant 13/16 -
NM_001293192.1 c.889C>T p.Arg297Cys missense_variant 13/16 -
NM_001293195.1 c.1165C>T p.Arg389Cys missense_variant 14/17 -
NM_001293196.1 c.889C>T p.Arg297Cys missense_variant 13/16 -
NM_001350650.1 c.820C>T p.Arg274Cys missense_variant 12/15 -
NM_001350651.1 c.820C>T p.Arg274Cys missense_variant 12/15 -
NM_012222.2 c.1240C>T p.Arg414Cys missense_variant 13/16 -
NR_146882.1 n.1423C>T - non_coding_transcript_exon_variant 13/17 -
NR_146883.1 n.1237C>T - non_coding_transcript_exon_variant 12/16 -