Original source

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

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

Chromosome 12:52676305 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM941003 ; PhenCode HIFD_KRT1:c.1445A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 4 HGVS names - Hide

12:g.52676305T>C
ENST00000252244.3:c.1445A>G
ENSP00000252244.3:p.Tyr482Cys
ENST00000548765.1:n.519A>G

About this variant

This variant overlaps 2 transcripts and is associated with 4 phenotypes.

Variant displays