Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.22 (A)

Chromosome 14:103699416 (forward strand) | View in location tab


with COSMIC COSM1128325 (G/A) ; HGMD-PUBLIC CM003625

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 23 transcripts, has 3821 sample genotypes, is associated with 2 phenotypes and is mentioned in 102 citations.

Variant displays