Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M
Location

Chromosome 12:52302269 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM001206 ; PhenCode HIFD_KRT86:c.353C>A (C/A)

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.52302269C>A
ENST00000293525.5:c.353C>A
ENSP00000293525.5:p.Ala118Glu
ENST00000423955.6:c.353C>A
ENSP00000444533.1:p.Ala118Glu
ENST00000553310.6:c.353C>A
ENSP00000452237.3:p.Ala118Glu

About this variant

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

Variant displays