Original source

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

Alleles
C/-|Ancestral: C
Location

Chromosome 11:5227018 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD951722, CM973761, CM066572 ; PhenCode HbVar.781 (C/-), HbVar.713 (C/T), HbVar.218 (C/A) ; dbSNP rs33958358 (C/A/T)

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

Synonyms

LSDB GL00614, HbVar.781

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays