Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.10 (A)
Location

Chromosome 12:40309109 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM104617

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.40309109G>A
ENST00000479187.5:n.874G>A
ENST00000298910.11:c.4193G>A
ENSP00000298910.7:p.Arg1398His
ENST00000430804.5:c.*866G>A

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 4022 sample genotypes, is associated with 1 phenotype and is mentioned in 10 citations.

Variant displays