chr19:41970494:G>T 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	chr19:42,474,646-42,474,646 View the variant detail on this assembly version.
hg38	chr19:41,970,494-41,970,494

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2345C>A	NP_001243142.1:p.Thr782Asn
	NM_001256214.1:c.2351C>A	NP_001243143.1:p.Thr784Asn
Ensemble	ENST00000543770.5:c.2345C>A	ENST00000543770.5:p.Thr782Asn
	ENST00000545399.6:c.2351C>A	ENST00000545399.6:p.Thr784Asn
	ENST00000602133.5:c.2222C>A	ENST00000602133.5:p.Thr741Asn
	ENST00000648268.1:c.2312C>A	ENST00000648268.1:p.Thr771Asn

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

MGeND

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

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Alternating hemiplegia of childhood 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	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: rs557939077 dbSNP
Genome: hg38
Position: chr19:41,970,494-41,970,494
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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