Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome 15:38299471 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM093928

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16212

HGVS names

This variant has 6 HGVS names - Hide

15:g.38299471T>A
ENST00000561317.1:c.68T>A
ENSP00000453680.1:p.Val23Asp
ENST00000561205.1:n.469T>A
ENST00000299084.8:c.131T>A
ENSP00000299084.4:p.Val44Asp

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays