Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 17:40819565 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM941012 ; PhenCode HIFD_KRT10:c.1325T>A (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

About this variant

This variant overlaps 5 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays