Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 16:177081 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB HbVar.126_1, 2486

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays