Original source

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

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

Chromosome 2:127426227 (forward strand) | View in location tab


with HGMD-PUBLIC CM941184, CS951513, CS930862

Most severe consequence
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays