Original source

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

C/G | Ancestral: C | Ambiguity code: S | MAF: 0.10 (G)

Chromosome 12:40263898 (forward strand) | View in location tab


with HGMD-PUBLIC CM104618

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 3 transcripts, 1 regulatory feature, has 4028 sample genotypes, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays