chr19:41967744:C>G 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	chr19:42,471,896-42,471,896 View the variant detail on this assembly version.
hg38	chr19:41,967,744-41,967,744

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2872G>C	NP_001243142.1:p.Gly958Arg
	NM_001256214.1:c.2878G>C	NP_001243143.1:p.Gly960Arg
Ensemble	ENST00000543770.5:c.2872G>C	ENST00000543770.5:p.Gly958Arg
	ENST00000545399.6:c.2878G>C	ENST00000545399.6:p.Gly960Arg
	ENST00000602133.5:c.2749G>C	ENST00000602133.5:p.Gly917Arg
	ENST00000648268.1:c.2839G>C	ENST00000648268.1:p.Gly947Arg

Summary

MGeND

Clinical significance	Pathogenic
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-01-01	no assertion criteria provided	Alternating hemiplegia of childhood 2	germline	Detail
Pathogenic	2021-02-16	criteria provided, single submitter	dystonia 12	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Alternating hemiplegia of childhood 2	NA	CLINVAR		Detail
0.246	alternating hemiplegia of childhood	The aim of this study was to determine the functional consequences of six ATP1A3...	BeFree	24631656	Detail

Annotation

Annotations

Descrption	Source	Links
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) AND Alternating hemiplegia of childhood 2	ClinVar	Detail
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) AND Dystonia 12	ClinVar	Detail
NA	DisGeNET	Detail
The aim of this study was to determine the functional consequences of six ATP1A3 mutations (S137Y, D...	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: rs398122887 dbSNP
Genome: hg38
Position: chr19:41,967,744-41,967,744
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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