Original source

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

Alleles
C/T|Ambiguity code: Y
Location

Chromosome 12:52287112 (forward strand)|View in location tab

Co-located variants

COSMIC COSM162065 ; HGMD-PUBLIC CM970851 ; PhenCode HIFD_KRT81:c.1237G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Hide

12:g.52287112C>T
ENST00000423955.6:c.-5+11166C>T
ENST00000615839.1:c.1237G>A
ENSP00000483796.1:p.Glu413Lys
ENST00000553310.6:c.-4-14801C>T
ENST00000327741.9:c.1237G>A
ENSP00000369349.4:p.Glu413Lys

About this variant

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

Variant displays