Original source

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

A/G/T | Ancestral: A | Ambiguity code: D | MAF: 0.12 (G)

Chromosome 17:39723335 (forward strand) | View in location tab


with COSMIC COSM4000121 (A/G) ; HGMD-PUBLIC CM004332

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 54 HGVS names - Show

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 32 transcripts, has 3980 sample genotypes, is associated with 3 phenotypes and is mentioned in 22 citations.

Variant displays