Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.46 (T)
Location

Chromosome 7:95308134 (forward strand) | View in location tab

Co-located

with COSMIC COSM150330 (T/C) ; HGMD-PUBLIC CM930596

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 8 synonyms - click the plus to show

This variant has 4 HGVS names - click the plus to show

7:g.95308134T>C
ENST00000222381.7:c.575A>G
ENSP00000222381.3:p.Gln192Arg
ENST00000433729.1:c.*300A>G

This variant has assays on 10 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 4542 sample genotypes, is associated with 4 phenotypes and is mentioned in 59 citations.

Variant displays