Original source

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

Alleles
G/T|Ancestral: G|Ambiguity code: K
Location

Chromosome 4:54285937 (forward strand)|View in location tab

Co-located variants

COSMIC COSM12399 ; HGMD-PUBLIC CM043866

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4749, Cosmic:12399

HGVS names

This variant has 8 HGVS names - Hide

4:g.54285937G>T
ENST00000507166.5:c.1816G>T
ENSP00000423325.1:p.Asp606Tyr
ENST00000257290.9:c.2536G>T
ENSP00000257290.5:p.Asp846Tyr
LRG_309:g.61841G>T
LRG_309t1:c.2536G>T
LRG_309p1:p.Asp846Tyr

About this variant

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

Variant displays