Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 4:73419634 (forward strand)|View in location tab

Co-located variants

COSMIC COSM109220 ; HGMD-PUBLIC CM910027

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB AlbB,Oliphant, NC_000004.10:g.74504215G>A

HGVS names

This variant has 21 HGVS names - Show

About this variant

This variant overlaps 15 transcripts, is associated with 2 phenotypes and is mentioned in 3 citations.

Somatic mutation displays