Original source

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

C/G/T|Ancestral: C|Ambiguity code: B

Chromosome 12:52676282 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM110593, CM920395 ; PhenCode HIFD_KRT1:c.1468G>A (C/T), HIFD_KRT1:c.1468G>C (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 3 phenotypes.

Variant displays