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 19:17882160 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM991141

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10652

HGVS names

This variant has 4 HGVS names - Hide

19:g.17882160G>A
ENST00000597109.1:n.182G>A
ENST00000222248.3:c.1183G>A
ENSP00000222248.2:p.Gly395Arg

About this variant

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

Variant displays