Original source

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

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

Chromosome 1:26795056 (forward strand) | View in location tab


with HGMD-PUBLIC CM106179, CM106178

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 12 HGVS names - Show

About this variant

This variant overlaps 12 transcripts and is associated with 3 phenotypes.

Variant displays