Original source

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

G/A | Ancestral: A | Ambiguity code: R | MAF: 0.20 (A)

Chromosome 14:20472447 (forward strand) | View in location tab


with COSMIC COSM147733 (G/A) ; HGMD-PUBLIC CM073244

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 11 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 10 transcripts, has 3848 sample genotypes, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays