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 12:52679867 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920394 ; PhenCode HIFD_KRT1:c.482T>C (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

12:g.52679867A>G
ENST00000252244.3:c.482T>C
ENSP00000252244.3:p.Leu161Pro

About this variant

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

Variant displays