Original source

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

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

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

Co-located

with COSMIC COSM739 (T/A), COSM1430077 (T/C) ; HGMD-PUBLIC CM074406

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB Cosmic:739, 4744

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays