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 19:17888432 (forward strand)|View in location tab

Co-located variants

COSMIC COSM323436 ; HGMD-PUBLIC CM981848

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10651

HGVS names

This variant has 3 HGVS names - Hide

19:g.17888432G>A
ENST00000222248.3:c.1628G>A
ENSP00000222248.2:p.Gly543Glu

About this variant

This variant overlaps 2 transcripts and is associated with 2 phenotypes.

Variant displays