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 12:52447788 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3398826 ; HGMD-PUBLIC CM981147 ; PhenCode HIFD_KRT6B:c.1414G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

12:g.52447788C>T
ENST00000252252.3:c.1414G>A
ENSP00000252252.3:p.Glu472Lys

About this variant

This variant overlaps 2 transcripts and is associated with 4 phenotypes.

Variant displays