Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 12:52306237 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM993348, CM990785 ; PhenCode HIFD_KRT86:c.1204G>C (G/C), HIFD_KRT86:c.1204G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
12:g.52306237G>A
ENST00000423955.6:c.1204G>A
ENSP00000444533.1:p.Glu402Lys
ENST00000293525.5:c.1204G>A
ENSP00000293525.5:p.Glu402Lys

Variant allele C
12:g.52306237G>C
ENST00000423955.6:c.1204G>C
ENSP00000444533.1:p.Glu402Gln
ENST00000293525.5:c.1204G>C
ENSP00000293525.5:p.Glu402Gln

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 6 phenotypes.

Variant displays