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 4:73404407 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CS020325

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB AnalbuminemiaBaghdad

HGVS names

This variant has 13 HGVS names - Show

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

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

Variant displays