chr11:113283488:G>A Detail (hg19) (DRD2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:113,283,488-113,283,488
hg38	chr11:113,412,766-113,412,766 View the variant detail on this assembly version.

HGVS

DRD2

Type	Transcript	Protein
RefSeq	NM_016574.3:c.841C>T	NP_057658.2:p.Pro281Ser
	NM_000795.3:c.928C>T	NP_000786.1:p.Pro310Ser
Ensemble	ENST00000544518.5:c.925C>T	ENST00000544518.5:p.Pro309Ser
	ENST00000346454.7:c.841C>T	ENST00000346454.7:p.Pro281Ser
	ENST00000362072.8:c.928C>T	ENST00000362072.8:p.Pro310Ser
	ENST00000538967.5:c.934C>T	ENST00000538967.5:p.Pro312Ser
	ENST00000542968.5:c.928C>T	ENST00000542968.5:p.Pro310Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

DRD2

Type	Database	ID	Link
Gene	MIM	126450	OMIM
	HGNC	3023	HGNC
	Ensembl	ENSG00000149295	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign		criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2016-09-06	criteria provided, single submitter	not provided	germline	Detail
Likely benign	2023-12-13	criteria provided, single submitter	Dystonic disorder	germline	Detail
Uncertain significance	2021-07-09	criteria provided, single submitter	DRD2-associated Dystonia	inherited	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.178	attention deficit hyperactivity disorder	We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs...	BeFree	24163823	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND not specified	ClinVar	Detail
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND not provided	ClinVar	Detail
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND Dystonic disorder	ClinVar	Detail
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) AND DRD2-associated Dystonia	ClinVar	Detail
We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1800496 dbSNP
Genome: hg19
Position: chr11:113,283,488-113,283,488
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121220
Allele Counts in All Race (ExAC): 166
Heterozygous Counts in All Race (ExAC): 162
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 0.0013694109882857613

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