chr16:55698005:G>C Detail (hg38) (SLC6A2)

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

Genome

Assembly	Position
hg19	chr16:55,731,917-55,731,917 View the variant detail on this assembly version.
hg38	chr16:55,698,005-55,698,005

HGVS

SLC6A2

Type	Transcript	Protein
RefSeq	NM_001172504.1:c.1369G>C	NP_001165975.1:p.Ala457Pro
	NM_001043.3:c.1369G>C	NP_001034.1:p.Ala457Pro
	NM_001172502.1:c.1054G>C	NP_001165973.1:p.Ala352Pro
	NM_001172501.1:c.1369G>C	NP_001165972.1:p.Ala457Pro
Ensemble	ENST00000219833.13:c.1369G>C	ENST00000219833.13:p.Ala457Pro
	ENST00000379906.6:c.1369G>C	ENST00000379906.6:p.Ala457Pro
	ENST00000414754.7:c.1369G>C	ENST00000414754.7:p.Ala457Pro
	ENST00000561820.5:c.1369G>C	ENST00000561820.5:p.Ala457Pro
	ENST00000566163.5:c.1234G>C	ENST00000566163.5:p.Ala412Pro
	ENST00000567238.1:c.1054G>C	ENST00000567238.1:p.Ala352Pro
	ENST00000568943.6:c.1369G>C	ENST00000568943.6:p.Ala457Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SLC6A2

Type	Database	ID	Link
Gene	MIM	163970	OMIM
	HGNC	11048	HGNC
	Ensembl	ENSG00000103546	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
Pathogenic	2002-03-01	no assertion criteria provided	neurocirculatory asthenia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Autonomic nervous system disorders	Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A4...	BeFree	12805287	Detail
<0.001	postural orthostatic tachycardia syndrome	All patients did not show the Ala457Pro mutation of NET; all sequence variants d...	BeFree	15946904	Detail
0.123	Mitral Valve Prolapse Syndrome	NA	CLINVAR		Detail
0.123	Mitral Valve Prolapse Syndrome	Orthostatic intolerance is not necessarily related to a specific mutation (Ala45...	BeFree	12589229	Detail
0.005	postural orthostatic tachycardia syndrome	(a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high...	BeFree	15946904	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro) AND Neurocirculatory asthenia	ClinVar	Detail
Recently, our laboratory reported a polymorphism in the human NET (hNET) gene A457P in an individual...	DisGeNET	Detail
All patients did not show the Ala457Pro mutation of NET; all sequence variants detected in alpha(2C)...	DisGeNET	Detail
NA	DisGeNET	Detail
Orthostatic intolerance is not necessarily related to a specific mutation (Ala457Pro) in the human n...	DisGeNET	Detail
(a) DNA extraction from leukocytes of 29 patients with POTS; (b) Denaturing high performance liquid ...	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: rs121918126 dbSNP
Genome: hg38
Position: chr16:55,698,005-55,698,005
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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