Original source

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

A/C | Ambiguity code: M

Chromosome 12:52303146 (forward strand) | View in location tab


with COSMIC COSM3765657 (A/C) ; PhenCode HIFD_KRT86:c.416A>C (A/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts and is associated with 1 phenotype.

Variant displays