Variant ID: 1-45798606-G-C

NM_012222.2(MUTYH):c.479C>G;(p.Ala160Gly)

This variant was identified in 1 publication




Publications:


CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

Human Mutation
LR Pal, K Kundu, Y Yin, J Moult
Publication Date: 2017-09

Variant appearance in text: MYH: 479C>G
PubMed Link: 28512736
Variant Present in the following documents:
  • NIHMS876335-supplement-Supp_Mat.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000354383.6 c.407C>G p.Ala136Gly missense_variant 6/16 -
ENST00000355498.2 c.404C>G p.Ala135Gly missense_variant 6/16 -
ENST00000372098.3 c.479C>G p.Ala160Gly missense_variant 6/16 -
ENST00000372100.5 c.437C>G p.Ala146Gly missense_variant 6/16 -
ENST00000372104.1 c.404C>G p.Ala135Gly missense_variant 7/17 -
ENST00000372110.3 c.449C>G p.Ala150Gly missense_variant 6/16 -
ENST00000372115.3 c.446C>G p.Ala149Gly missense_variant 6/16 -
ENST00000412971.1 c.37-100C>G - intron_variant - 1/6
ENST00000435155.1 c.437C>G p.Ala146Gly missense_variant 6/10 -
ENST00000448481.1 c.437C>G p.Ala146Gly missense_variant 6/16 -
ENST00000450313.1 c.488C>G p.Ala163Gly missense_variant 6/16 -
ENST00000456914.2 c.404C>G p.Ala135Gly missense_variant 6/16 -
ENST00000461495.1 c.*143C>G - 3_prime_UTR_variant,NMD_transcript_variant 5/10 -
ENST00000462387.1 n.726C>G - non_coding_transcript_exon_variant 3/3 -
ENST00000462388.1 n.12C>G - non_coding_transcript_exon_variant 1/5 -
ENST00000467940.1 c.*327C>G - 3_prime_UTR_variant,NMD_transcript_variant 6/10 -
ENST00000470256.1 c.308-100C>G - intron_variant,NMD_transcript_variant - 4/8
ENST00000475516.1 c.*217C>G - 3_prime_UTR_variant,NMD_transcript_variant 6/16 -
ENST00000476789.1 n.761C>G - non_coding_transcript_exon_variant 5/5 -
ENST00000478796.1 n.391C>G - non_coding_transcript_exon_variant 1/5 -
ENST00000479746.2 n.604C>G - non_coding_transcript_exon_variant 5/5 -
ENST00000481139.1 n.794C>G - non_coding_transcript_exon_variant 4/4 -
ENST00000481571.1 c.*217C>G - 3_prime_UTR_variant,NMD_transcript_variant 6/16 -
ENST00000483642.1 n.836C>G - non_coding_transcript_exon_variant 4/5 -
ENST00000485484.1 n.705C>G - non_coding_transcript_exon_variant 4/5 -
ENST00000488731.2 c.116-100C>G - intron_variant - 2/6
ENST00000492494.1 n.718C>G - non_coding_transcript_exon_variant 4/5 -
ENST00000525160.1 c.*55C>G - 3_prime_UTR_variant,NMD_transcript_variant 4/7 -
ENST00000528013.2 c.446C>G p.Ala149Gly missense_variant 6/16 -
ENST00000528332.2 c.158-100C>G - intron_variant - 2/6
ENST00000529984.1 c.116-100C>G - intron_variant - 2/6
ENST00000531105.1 c.115+1457C>G - intron_variant - 2/2
ENST00000533178.1 c.122-247C>G - intron_variant,NMD_transcript_variant - 1/9
NM_001048171.1 c.446C>G p.Ala149Gly missense_variant 6/16 -
NM_001048172.1 c.407C>G p.Ala136Gly missense_variant 6/16 -
NM_001048173.1 c.404C>G p.Ala135Gly missense_variant 6/16 -
NM_001048174.1 c.404C>G p.Ala135Gly missense_variant 6/16 -
NM_001128425.1 c.488C>G p.Ala163Gly missense_variant 6/16 -
NM_001293190.1 c.449C>G p.Ala150Gly missense_variant 6/16 -
NM_001293191.1 c.437C>G p.Ala146Gly missense_variant 6/16 -
NM_001293192.1 c.128C>G p.Ala43Gly missense_variant 6/16 -
NM_001293195.1 c.404C>G p.Ala135Gly missense_variant 7/17 -
NM_001293196.1 c.128C>G p.Ala43Gly missense_variant 6/16 -
NM_001350650.1 c.59C>G p.Ala20Gly missense_variant 5/15 -
NM_001350651.1 c.59C>G p.Ala20Gly missense_variant 5/15 -
NM_012222.2 c.479C>G p.Ala160Gly missense_variant 6/16 -
NR_146882.1 n.662C>G - non_coding_transcript_exon_variant 6/17 -
NR_146883.1 n.476C>G - non_coding_transcript_exon_variant 5/16 -