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rs587776842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 3 Autonomic nervous system dysfunction?
(-;GCCGACCTCCTCC) 3 Carrier of DRD4 deletion allele
(CCGCCGACCTCCT;CCGCCGACCTCCT) 0 common in clinvar
Make rs587776842(GCCGACCTCCTCC;GCCGACCTCCTCC)
ReferenceGRCh38 38.1/142
Chromosome11
Position637539
GeneDRD4
is asnp
is mentioned by
dbSNPrs587776842
ebirs587776842
HLIrs587776842
Exacrs587776842
Varsomers587776842
Maprs587776842
PheGenIrs587776842
hapmaprs587776842
1000 genomesrs587776842
hgdprs587776842
ensemblrs587776842
gopubmedrs587776842
geneviewrs587776842
scholarrs587776842
googlers587776842
pharmgkbrs587776842
gwascentralrs587776842
openSNPrs587776842
23andMers587776842
23andMe allrs587776842
SNP Nexus

SNPshotrs587776842
SNPdbers587776842
MSV3drs587776842
GWAS Ctlgrs587776842
Max Magnitude3

rs587776842, also known as c.235_247delGCCGACCTCCTCC, represents a rare deletion variant in the DRD4 gene on chromosome 11, encoding a nonfunctional DRD4 protein. The DRD4 protein is a G protein-coupled receptor belonging to the dopamine D2-like receptor family.

A patient carrying two copies of the minor allele of rs587776842 was reported to have an autonomic nervous system dysfunction; see OMIM. Heterozygous individuals are not reported to be symptomatic.


ClinVar
Risk
Alt
Reference Rs587776842(CCGCCGACCTCCT;CCGCCGACCTCCT)
Significance Pathogenic
Disease Autonomic nervous system dysfunction
Variation info
Gene DRD4
CLNDBN Autonomic nervous system dysfunction
Reversed 0
HGVS NC_000011.9:g.637539_637551delGCCGACCTCCTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018254.23,