Original source

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

G/A | Ancestral: G | Ambiguity code: R | MAF: 0.16 (A)

Chromosome 12:52302264 (forward strand) | View in location tab


with COSMIC COSM4147201 (G/A) ; PhenCode HIFD_KRT86:c.348G>A (G/A)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays