Original source

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

A/C/G | Ancestral: A | Ambiguity code: V

Chromosome 17:40822137 (forward strand) | View in location tab


with COSMIC COSM4066246 (A/G) ; HGMD-PUBLIC CM941005, CM941004 ; PhenCode HIFD_KRT10:c.449T>G (A/C), HIFD_KRT10:c.449T>C (A/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

About this variant

This variant overlaps 10 transcripts and is associated with 7 phenotypes.

Variant displays