Original source

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

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

Chromosome 4:54285926 (forward strand)|View in location tab

Co-located variant

COSMIC COSM736

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4741, Cosmic:736

HGVS names

This variant has 8 HGVS names - Hide

4:g.54285926A>T
ENST00000507166.5:c.1805A>T
ENSP00000423325.1:p.Asp602Val
ENST00000257290.9:c.2525A>T
ENSP00000257290.5:p.Asp842Val
LRG_309:g.61830A>T
LRG_309t1:c.2525A>T
LRG_309p1:p.Asp842Val

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays