Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

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

Variant displays