chr19:42473002:GAC> 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	chr19:42,473,002-42,473,004
hg38	chr19:41,968,850-41,968,852

HGVS

ATP1A3

Type	Transcript	Protein
RefSeq	NM_001256213.1:c.2785_2787delGTC	NP_001243142.1:p.Val930del
	NM_001256214.1:c.2791_2793delGTC	NP_001243143.1:p.Val932del
Ensemble	ENST00000543770.5:c.2785_2787delGTC	ENST00000543770.5:p.Val930del
	ENST00000545399.6:c.2791_2793delGTC	ENST00000545399.6:p.Val932del
	ENST00000602133.5:c.2662_2664delGTC	ENST00000602133.5:p.Val889del
	ENST00000648268.1:c.2752_2754delGTC	ENST00000648268.1:p.Val919del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

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
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: rs606231443 dbSNP
Genome: hg19
Position: chr19:42,473,002-42,473,004
Variant Type: snv
Reference Allele: GAC
Alternative Allele: -

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