Original source

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

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

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


with HGMD-PUBLIC CS020325

Most severe consequence
Splice donor variant
Evidence status

Clinical significance


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