Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

T/A/C | Ancestral: T | Ambiguity code: H

Chromosome 11:5225486 (forward strand) | View in location tab


with HGMD-PUBLIC CR900266, CR057232 ; PhenCode HbVar.2720 (T/A), HbVar.970 (T/C)

Most severe consequence
Evidence status

Clinical significance


HbVar 2720, 970

This variation has 4 HGVS names - click the plus to show

About this variant

This variant overlaps 11 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variation displays