Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 3:57198277 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM980971

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

3:g.57198277G>A
ENST00000473921.2:c.376C>T
ENSP00000418918.1:p.Arg126Cys
ENST00000295934.7:c.478C>T
ENSP00000295934.3:p.Arg160Cys

About this variant

This variant overlaps 3 transcripts and is associated with 3 phenotypes.

Variant displays