Original source

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

Alleles
C/- | Ancestral: C
Location

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

Co-located

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

Most severe consequence
 
Frameshift variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays