rs587776842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 3 | Autonomic nervous system dysfunction? |
(-;GCCGACCTCCTCC) | 3 | Carrier of DRD4 deletion allele |
(CCGCCGACCTCCT;CCGCCGACCTCCT) | 0 | common in clinvar |
(GCCGACCTCCTCC;GCCGACCTCCTCC) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 637539 |
Gene | DRD4 |
is a | snp |
is | mentioned by |
dbSNP | rs587776842 |
dbSNP (classic) | rs587776842 |
ClinGen | rs587776842 |
ebi | rs587776842 |
HLI | rs587776842 |
Exac | rs587776842 |
Gnomad | rs587776842 |
Varsome | rs587776842 |
LitVar | rs587776842 |
Map | rs587776842 |
PheGenI | rs587776842 |
Biobank | rs587776842 |
1000 genomes | rs587776842 |
hgdp | rs587776842 |
ensembl | rs587776842 |
geneview | rs587776842 |
scholar | rs587776842 |
rs587776842 | |
pharmgkb | rs587776842 |
gwascentral | rs587776842 |
openSNP | rs587776842 |
23andMe | rs587776842 |
SNPshot | rs587776842 |
SNPdbe | rs587776842 |
MSV3d | rs587776842 |
GWAS Ctlg | rs587776842 |
Merged from | Rs554375713 |
Max Magnitude | 3 |
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 | Rs587776842(-;-) Rs587776842(CCGCCGACCTCCT;CCGCCGACCTCCT) |
Alt | Rs587776842(-;-) Rs587776842(CCGCCGACCTCCT;CCGCCGACCTCCT) |
Reference | Rs587776842(GCCGACCTCCTCC;GCCGACCTCCTCC) |
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, |