Original source

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

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

Chromosome 12:52306270 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970853 ; PhenCode HIFD_KRT86:c.1237G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 5 HGVS names - click the plus to show

12:g.52306270G>A
ENST00000423955.6:c.1237G>A
ENSP00000444533.1:p.Glu413Lys
ENST00000293525.5:c.1237G>A
ENSP00000293525.5:p.Glu413Lys

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays