Original source

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

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

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

Co-located variants

COSMIC COSM3462212 ; 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

HGVS names

This variant has 3 HGVS names - Hide

12:g.52315936C>T
ENST00000293670.3:c.1219G>A
ENSP00000293670.3:p.Glu407Lys

About this variant

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

Variant displays