chr19:42474427:C>T Detail (hg19) (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	chr19:42,474,427-42,474,427
hg38	chr19:41,970,275-41,970,275 View the variant detail on this assembly version.

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256214.1:c.2491G>A	NP_001243143.1:p.Glu831Lys
	NM_001256213.1:c.2485G>A	NP_001243142.1:p.Glu829Lys
Ensemble	ENST00000602133.5:c.2362G>A	ENST00000602133.5:p.Glu788Lys
	ENST00000545399.6:c.2491G>A	ENST00000545399.6:p.Glu831Lys
	ENST00000543770.5:c.2485G>A	ENST00000543770.5:p.Glu829Lys
	ENST00000648268.1:c.2452G>A	ENST00000648268.1:p.Glu818Lys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-03-16	criteria provided, multiple submitters, no conflicts	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	de novo germline paternal	Detail
Pathogenic	2014-08-29	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2015-07-20	criteria provided, single submitter	Alternating hemiplegia of childhood 2	germline	Detail
Pathogenic	2023-11-27	criteria provided, single submitter	dystonia 12	germline	Detail
Pathogenic	2021-12-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-...	ClinVar	Detail
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND Inborn genetic diseases	ClinVar	Detail
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND Alternating hemiplegia of childhood 2	ClinVar	Detail
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND Dystonia 12	ClinVar	Detail
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
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: rs587777771 dbSNP
Genome: hg19
Position: chr19:42,474,427-42,474,427
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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