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 - Show

About this variant

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

Variant displays