Original source

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

G/A/C | Ancestral: G | Ambiguity code: V

Chromosome 12:52306237 (forward strand) | View in location tab


with HGMD-PUBLIC CM993348, CM990785 ; PhenCode HIFD_KRT86:c.1204G>C (G/C), HIFD_KRT86:c.1204G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays