This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 17:40822119 (forward strand) | View in location tab


with COSMIC COSM1383031 (C/T) ; HGMD-PUBLIC CM920396, CM941007, CM930453 ; PhenCode HIFD_KRT10:c.467G>A (C/T), HIFD_KRT10:c.467G>C (C/G), HIFD_KRT10:c.467G>T (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

About this variant

This variant overlaps 15 transcripts and is associated with 4 phenotypes.

Variant displays