Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: 0.14 (C)

Chromosome 4:88007816 (forward strand) | View in location tab


with COSMIC COSM4159292 (G/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_011072

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 2 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays