chr19:41970539: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	chr19:42,474,691-42,474,691 View the variant detail on this assembly version.
hg38	chr19:41,970,539-41,970,539

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2300G>A	NP_001243142.1:p.Arg767His
	NM_001256214.1:c.2306G>A	NP_001243143.1:p.Arg769His
Ensemble	ENST00000543770.5:c.2300G>A	ENST00000543770.5:p.Arg767His
	ENST00000545399.6:c.2306G>A	ENST00000545399.6:p.Arg769His
	ENST00000602133.5:c.2177G>A	ENST00000602133.5:p.Arg726His
	ENST00000648268.1:c.2267G>A	ENST00000648268.1:p.Arg756His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-08-07	criteria provided, multiple submitters, no conflicts	dystonia 12	de novo germline unknown	Detail
Pathogenic Likely pathogenic	2023-09-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2018-11-29	criteria provided, multiple submitters, no conflicts	Alternating hemiplegia of childhood 2	de novo germline	Detail
Likely pathogenic	2016-02-16	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2019-03-07	criteria provided, single submitter	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	de novo	Detail
Pathogenic	2020-07-27	criteria provided, single submitter	not specified	germline	Detail
Pathogenic	2022-06-24	criteria provided, single submitter	ATP1A3-associated neurological disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.487	dystonia 12	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND Dystonia 12	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND not provided	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND Alternating hemiplegia of childhood 2	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND Inborn genetic diseases	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND Cerebellar ataxia-areflexia-pes cavus-optic atrophy-...	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND not specified	ClinVar	Detail
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) AND ATP1A3-associated neurological disorder	ClinVar	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: rs606231435 dbSNP
Genome: hg38
Position: chr19:41,970,539-41,970,539
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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