Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|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 variant

HGMD-PUBLIC CM930596

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 8 synonyms - Show

HGVS names

This variant has 4 HGVS names - Hide

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

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 3 transcripts, has 4542 sample genotypes, is associated with 4 phenotypes and is mentioned in 61 citations.

Variant displays