Variant ID: 1-45798288-C-T

NM_012222.2(MUTYH):c.639G>A;(p.Gly213Gly)

This variant was identified in 2 publications




Publications:


Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

Gut
X Ma, B Zhang, W Zheng
Publication Date: 2014-02

Variant appearance in text: MUTYH: Gly213Gly
PubMed Link: 23946381
Variant Present in the following documents:
  • NIHMS535098-supplement-Webappendix.pdf
View BVdb publication page



Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Bmc Cancer
S Küry, B Buecher, S Robiou-du-Pont, C Scoul, H Colman, T Le Neel, C Le Houérou, R Faroux, J Ollivry, B Lafraise, LD Chupin, V Sébille, S Bézieau
Publication Date: 2008-11-07

Variant appearance in text: MUTYH: Gly213Gly
PubMed Link: 18992148
Variant Present in the following documents:
  • 1471-2407-8-326-S3.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.567G>A p.Gly189= synonymous_variant 8/16 -
ENST00000355498.2 c.564G>A p.Gly188= synonymous_variant 8/16 -
ENST00000372098.3 c.639G>A p.Gly213= synonymous_variant 8/16 -
ENST00000372100.5 c.597G>A p.Gly199= synonymous_variant 8/16 -
ENST00000372104.1 c.564G>A p.Gly188= synonymous_variant 9/17 -
ENST00000372110.3 c.609G>A p.Gly203= synonymous_variant 8/16 -
ENST00000372115.3 c.606G>A p.Gly202= synonymous_variant 8/16 -
ENST00000412971.1 c.180G>A p.Gly60= synonymous_variant 3/7 -
ENST00000435155.1 c.597G>A p.Gly199= synonymous_variant 8/10 -
ENST00000448481.1 c.597G>A p.Gly199= synonymous_variant 8/16 -
ENST00000450313.1 c.648G>A p.Gly216= synonymous_variant 8/16 -
ENST00000456914.2 c.564G>A p.Gly188= synonymous_variant 8/16 -
ENST00000461495.1 c.*303G>A - 3_prime_UTR_variant,NMD_transcript_variant 7/10 -
ENST00000462388.1 n.255G>A - non_coding_transcript_exon_variant 2/5 -
ENST00000467940.1 c.*487G>A - 3_prime_UTR_variant,NMD_transcript_variant 8/10 -
ENST00000470256.1 c.451G>A p.Ala151Thr missense_variant,NMD_transcript_variant 6/9 -
ENST00000475516.1 c.*377G>A - 3_prime_UTR_variant,NMD_transcript_variant 8/16 -
ENST00000478796.1 n.551G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000479746.2 n.922G>A - non_coding_transcript_exon_variant 5/5 -
ENST00000481571.1 c.*377G>A - 3_prime_UTR_variant,NMD_transcript_variant 8/16 -
ENST00000483642.1 n.1079G>A - non_coding_transcript_exon_variant 5/5 -
ENST00000488731.2 c.187+147G>A - intron_variant - 3/6
ENST00000492494.1 n.961G>A - non_coding_transcript_exon_variant 5/5 -
ENST00000525160.1 c.*215G>A - 3_prime_UTR_variant,NMD_transcript_variant 6/7 -
ENST00000528013.2 c.606G>A p.Gly202= synonymous_variant 8/16 -
ENST00000528332.2 c.229+147G>A - intron_variant - 3/6
ENST00000529984.1 c.187+147G>A - intron_variant - 3/6
ENST00000531105.1 c.115+1775G>A - intron_variant - 2/2
ENST00000533178.1 c.193G>A p.Ala65Thr missense_variant,NMD_transcript_variant 2/10 -
NM_001048171.1 c.606G>A p.Gly202= synonymous_variant 8/16 -
NM_001048172.1 c.567G>A p.Gly189= synonymous_variant 8/16 -
NM_001048173.1 c.564G>A p.Gly188= synonymous_variant 8/16 -
NM_001048174.1 c.564G>A p.Gly188= synonymous_variant 8/16 -
NM_001128425.1 c.648G>A p.Gly216= synonymous_variant 8/16 -
NM_001293190.1 c.609G>A p.Gly203= synonymous_variant 8/16 -
NM_001293191.1 c.597G>A p.Gly199= synonymous_variant 8/16 -
NM_001293192.1 c.288G>A p.Gly96= synonymous_variant 8/16 -
NM_001293195.1 c.564G>A p.Gly188= synonymous_variant 9/17 -
NM_001293196.1 c.288G>A p.Gly96= synonymous_variant 8/16 -
NM_001350650.1 c.219G>A p.Gly73= synonymous_variant 7/15 -
NM_001350651.1 c.219G>A p.Gly73= synonymous_variant 7/15 -
NM_012222.2 c.639G>A p.Gly213= synonymous_variant 8/16 -
NR_146882.1 n.822G>A - non_coding_transcript_exon_variant 8/17 -
NR_146883.1 n.636G>A - non_coding_transcript_exon_variant 7/16 -