Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 11:5225485 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR880076 ; PhenCode HbVar.971 (T/C)

Most severe consequence
Evidence status

Clinical significance

Synonyms

HbVar 971

This variation has 2 HGVS names - click the plus to show

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 3 citations.

Variation displays