Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome 12:52676314 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990773 ; PhenCode HIFD_KRT1:c.1436T>C (A/G)

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.52676314A>G
ENST00000252244.3:c.1436T>C
ENSP00000252244.3:p.Ile479Thr
ENST00000548765.1:n.510T>C

About this variant

This variant overlaps 2 transcripts and is associated with 5 phenotypes.

Variant displays