Original source

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

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

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


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