Original source

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

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

About this variant

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

Variation displays