Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 4:154589501 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950457

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1937

This variant has 12 HGVS names - click the plus to show

4:g.154589501A>T
ENST00000302053.7:c.116T>A
ENSP00000306361.3:p.Val39Asp
ENST00000403106.7:c.116T>A
ENSP00000385981.3:p.Val39Asp
ENST00000622532.1:c.116T>A
ENSP00000478487.1:p.Val39Asp
LRG_557:g.6245T>A
LRG_557t2:c.116T>A
LRG_557p2:p.Val39Asp
LRG_557t1:c.116T>A
LRG_557p1:p.Val39Asp

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays