chr19:41970533:A>C Detail (hg38) (ATP1A3)

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

Genome

Assembly	Position
hg19	chr19:42,474,685-42,474,685 View the variant detail on this assembly version.
hg38	chr19:41,970,533-41,970,533

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2306T>G	NP_001243142.1:p.Ile769Ser
	NM_001256214.1:c.2312T>G	NP_001243143.1:p.Ile771Ser
Ensemble	ENST00000543770.5:c.2306T>G	ENST00000543770.5:p.Ile769Ser
	ENST00000545399.6:c.2312T>G	ENST00000545399.6:p.Ile771Ser
	ENST00000602133.5:c.2183T>G	ENST00000602133.5:p.Ile728Ser
	ENST00000648268.1:c.2273T>G	ENST00000648268.1:p.Ile758Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

ATP1A3

Type	Database	ID	Link
Gene	MIM	182350	OMIM
	HGNC	801	HGNC
	Ensembl	ENSG00000105409	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	2004-07-22	no assertion criteria provided	dystonia 12	germline	Detail
Likely pathogenic	2019-07-18	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.487	dystonia 12	NA	CLINVAR		Detail
0.487	dystonia 12	Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1...	BeFree	24803225	Detail

Annotation

Annotations

Descrption	Source	Links
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) AND Dystonia 12	ClinVar	Detail
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropath...	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: rs80356535 dbSNP
Genome: hg38
Position: chr19:41,970,533-41,970,533
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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