Original source

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

C/G | Ancestral: C | Ambiguity code: S

Chromosome 1:226891773 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


PhenCode ADM_157

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 8 transcripts and is associated with 1 phenotype.

Variant displays