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 19:40395495 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM011006

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 13365, 2010_April_001_087_PRX_605725_0001

HGVS names

This variant has 8 HGVS names - Hide

19:g.40395495G>A
ENST00000324001.7:c.2857C>T
ENSP00000326018.6:p.Arg953Ter
ENST00000291825.11:c.*3062C>T
LRG_265:g.22870C>T
LRG_265t2:c.2857C>T
LRG_265p2:p.Arg953Ter
LRG_265t1:c.*3062C>T

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays