Original source

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

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

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

Co-located variants

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 5 phenotypes.

Variant displays