Original source

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

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

Chromosome 17:40822108 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941010, CM941009 ; PhenCode HIFD_KRT10:c.478T>G (A/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 5 transcripts and is associated with 4 phenotypes.

Variant displays