Original source

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

G/A/C | Ancestral: G | Ambiguity code: V | MAF: 0.02 (A)

Chromosome 8:19948197 (forward strand) | View in location tab


with COSMIC COSM3432253 (G/A) ; HGMD-PUBLIC CM910259

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 14 transcripts, has 2542 sample genotypes, is associated with 4 phenotypes and is mentioned in 19 citations.

Variant displays