chr19:41970284: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	chr19:42,474,436-42,474,436 View the variant detail on this assembly version.
hg38	chr19:41,970,284-41,970,284

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2476G>A	NP_001243142.1:p.Glu826Lys
	NM_001256214.1:c.2482G>A	NP_001243143.1:p.Glu828Lys
Ensemble	ENST00000543770.5:c.2476G>A	ENST00000543770.5:p.Glu826Lys
	ENST00000545399.6:c.2482G>A	ENST00000545399.6:p.Glu828Lys
	ENST00000602133.5:c.2353G>A	ENST00000602133.5:p.Glu785Lys
	ENST00000648268.1:c.2443G>A	ENST00000648268.1:p.Glu815Lys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry
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 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-12-10	criteria provided, multiple submitters, no conflicts	Alternating hemiplegia of childhood 2	germline	Detail
Pathogenic	2022-12-27	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-04-28	criteria provided, multiple submitters, no conflicts	dystonia 12	germline de novo	Detail
Pathogenic	2017-01-01	criteria provided, single submitter	Global developmental delay	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	dystonia 12,Alternating hemiplegia of childhood 2,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	dystonia 12,Alternating hemiplegia of childhood 2,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	dystonia 12,Alternating hemiplegia of childhood 2,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	unknown	Detail
Pathogenic	2019-10-01	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2018-12-14	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-01-03	criteria provided, single submitter	developmental and epileptic encephalopathy 99	germline	Detail
Pathogenic	2021-06-17	criteria provided, single submitter	Dystonic disorder	germline	Detail
Pathogenic	2024-01-16	criteria provided, single submitter		de novo	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.2443G>A (p.Glu815Lys) AND Alternating hemiplegia of childhood 2	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND not provided	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND Dystonia 12	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND not specified	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND Inborn genetic diseases	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND Developmental and epileptic encephalopathy 99	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND multiple conditions	ClinVar	Detail
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) AND Seizure	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: rs387907281 dbSNP
Genome: hg38
Position: chr19:41,970,284-41,970,284
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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