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 4:73404395 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910023

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB Lille

HGVS names

This variant has 21 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, is associated with 2 phenotypes and is mentioned in 5 citations.

Variant displays