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 12:40310435 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053302

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.40310435G>A
ENST00000479187.5:n.1003G>A
ENST00000430804.5:c.*995G>A
ENST00000298910.11:c.4322G>A
ENSP00000298910.7:p.Arg1441His

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 4 transcripts, has 2 sample genotypes, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays