Original source

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

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

Chromosome 12:52302256 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990784, CM992904 ; PhenCode HIFD_KRT86:c.340A>C (A/C), HIFD_KRT86:c.340A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

Variant allele C
12:g.52302256A>C
ENST00000423955.6:c.340A>C
ENSP00000444533.1:p.Asn114His
ENST00000293525.5:c.340A>C
ENSP00000293525.5:p.Asn114His
ENST00000553310.6:c.340A>C
ENSP00000452237.3:p.Asn114His

Variant allele G
12:g.52302256A>G
ENST00000423955.6:c.340A>G
ENSP00000444533.1:p.Asn114Asp
ENST00000293525.5:c.340A>G
ENSP00000293525.5:p.Asn114Asp
ENST00000553310.6:c.340A>G
ENSP00000452237.3:p.Asn114Asp

About this variant

This variant overlaps 8 transcripts and is associated with 4 phenotypes.

Variant displays