chr19:42480611:G>A 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	chr19:42,480,611-42,480,611
hg38	chr19:41,976,459-41,976,459 View the variant detail on this assembly version.

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2084C>T	NP_001243142.1:p.Ser695Phe
	NM_001256214.1:c.2090C>T	NP_001243143.1:p.Ser697Phe
Ensemble	ENST00000543770.5:c.2084C>T	ENST00000543770.5:p.Ser695Phe
	ENST00000545399.6:c.2090C>T	ENST00000545399.6:p.Ser697Phe
	ENST00000602133.5:c.1961C>T	ENST00000602133.5:p.Ser654Phe
	ENST00000648268.1:c.2051C>T	ENST00000648268.1:p.Ser684Phe

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	2020-08-14	criteria provided, single submitter	dystonia 12	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.2051C>T (p.Ser684Phe) 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: rs397515577 dbSNP
Genome: hg19
Position: chr19:42,480,611-42,480,611
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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