Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

A/G | Ancestral: A | Ambiguity code: R

Chromosome 12:52676314 (forward strand) | View in location tab


with HGMD-PUBLIC CM990773 ; PhenCode HIFD_KRT1:c.1436T>C (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 4 HGVS names - click the plus to show

About this variant

This variant overlaps 2 transcripts and is associated with 5 phenotypes.

Variant displays