Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.36 (A)

Chromosome 12:52319191 (forward strand) | View in location tab


with COSMIC COSM4147202 (G/A) ; PhenCode HIFD_KRT83:c.558C>T (G/A)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 3 HGVS names - Show

Genotyping chips

This variant has assays on: Affy GenomeWideSNP_6.0

About this variant

This variant overlaps 1 transcript, 1 regulatory feature, has 3688 sample genotypes and is associated with 1 phenotype.

Variant displays