Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 12:52315936 (forward strand) | View in location tab

Co-located

with COSMIC COSM3462212 (C/T) ; HGMD-PUBLIC CM050656 ; PhenCode HIFD_KRT83:c.1219G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 11443, KRT83:c.1219G>A

This variant has 3 HGVS names - click the plus to show

About this variant

This variant overlaps 1 transcript, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays