chr19:41970405:C>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	chr19:42,474,557-42,474,557 View the variant detail on this assembly version.
hg38	chr19:41,970,405-41,970,405

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2434G>A	NP_001243142.1:p.Asp812Asn
	NM_001256214.1:c.2440G>A	NP_001243143.1:p.Asp814Asn
Ensemble	ENST00000543770.5:c.2434G>A	ENST00000543770.5:p.Asp812Asn
	ENST00000545399.6:c.2440G>A	ENST00000545399.6:p.Asp814Asn
	ENST00000602133.5:c.2311G>A	ENST00000602133.5:p.Asp771Asn
	ENST00000648268.1:c.2401G>A	ENST00000648268.1:p.Asp801Asn

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	2022-05-19	criteria provided, multiple submitters, no conflicts	Alternating hemiplegia of childhood 2	de novo germline unknown	Detail
Pathogenic	2023-10-03	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2	unknown	Detail
Pathogenic	2017-05-18	criteria provided, single submitter	dystonia 12,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Alternating hemiplegia of childhood 2	unknown	Detail
Pathogenic	2017-04-28	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-12-10	criteria provided, multiple submitters, no conflicts	dystonia 12	germline unknown	Detail
Likely pathogenic		no assertion criteria provided	Dystonic disorder	unknown	Detail
Pathogenic	2023-12-08	criteria provided, multiple submitters, no conflicts	ATP1A3-related disorder	germline	Detail
Pathogenic	2002-09-08	no assertion criteria provided	developmental and epileptic encephalopathy 99	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.487	dystonia 12	NA	CLINVAR		Detail
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.2401G>A (p.Asp801Asn) AND Alternating hemiplegia of childhood 2	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND not provided	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND Inborn genetic diseases	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND Dystonia 12	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND ATP1A3-related disorder	ClinVar	Detail
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) AND Developmental and epileptic encephalopathy 99	ClinVar	Detail
NA	DisGeNET	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: -
Genome: hg38
Position: chr19:41,970,405-41,970,405
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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