Original source

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

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

Chromosome 12:52679786 (forward strand) | View in location tab


with HGMD-PUBLIC CM994570, CM941001 ; PhenCode HIFD_KRT1:c.563A>C (T/G), HIFD_KRT1:c.563A>G (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

About this variant

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

Variant displays