Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

About this variant

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

Variant displays