Original source

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

T/C | Ancestral: T | Ambiguity code: Y

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


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

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