Original source

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

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 8 HGVS names - click the plus to show

About this variant

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

Variant displays