Original source

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

T/A/C|Ancestral: T|Ambiguity code: H

Chromosome 17:40819575 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941011 ; PhenCode HIFD_KRT10:c.1315A>G (T/C)

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays