chr19:42474541:A>C 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	chr19:42,474,541-42,474,541
hg38	chr19:41,970,389-41,970,389 View the variant detail on this assembly version.

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2450T>G	NP_001243142.1:p.Met817Arg
	NM_001256214.1:c.2456T>G	NP_001243143.1:p.Met819Arg
Ensemble	ENST00000543770.5:c.2450T>G	ENST00000543770.5:p.Met817Arg
	ENST00000545399.6:c.2456T>G	ENST00000545399.6:p.Met819Arg
	ENST00000602133.5:c.2327T>G	ENST00000602133.5:p.Met776Arg
	ENST00000648268.1:c.2417T>G	ENST00000648268.1:p.Met806Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2017-11-08	criteria provided, single submitter	dystonia 12	germline	Detail

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
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) AND Dystonia 12	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: rs549006436 dbSNP
Genome: hg19
Position: chr19:42,474,541-42,474,541
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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