Original source

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

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

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

Co-located variant

HGMD-PUBLIC CM104617

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

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

Variant allele T
12:g.40309109G>T
ENST00000479187.5:n.874G>T
ENST00000430804.5:c.*866G>T
ENST00000298910.11:c.4193G>T
ENSP00000298910.7:p.Arg1398Leu

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

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

Variant displays