Original source

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

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

Chromosome 12:40321114 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043519

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.40321114A>G
ENST00000479187.5:n.1777A>G
ENST00000430804.5:c.*1769A>G
ENST00000298910.11:c.5096A>G
ENSP00000298910.7:p.Tyr1699Cys

Genotyping chips

This variant has assays on: Illumina_ImmunoChip

About this variant

This variant overlaps 4 transcripts, has 1 sample genotype, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays