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 4:54274869 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1430077, COSM739 ; HGMD-PUBLIC CM074406

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB Cosmic:739, 4744

HGVS names

This variant has 10 HGVS names - Hide

4:g.54274869T>A
ENST00000509092.5:n.1500T>A
ENST00000507166.5:c.1018-56T>A
ENST00000257290.9:c.1682T>A
ENSP00000257290.5:p.Val561Asp
ENST00000509490.5:c.1682T>A
ENSP00000424218.1:p.Val561Asp
LRG_309:g.50773T>A
LRG_309t1:c.1682T>A
LRG_309p1:p.Val561Asp

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays