Original source

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

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

Chromosome 11:5225705 (forward strand) | View in location tab


with HGMD-PUBLIC CM073120, CD991744 ; PhenCode HbVar.488 (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2838, HbVar.488

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays