Original source

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

A/G/T | Ancestral: A | Ambiguity code: D

Chromosome 4:73411994 (forward strand) | View in location tab


with HGMD-PUBLIC CS880065

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


LSDB AnalbuminemiaVancouver

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

About this variant

This variant overlaps 34 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays