PPP2R1A protein phosphatase 2 scaffold subunit Aalpha

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: PPP2R1A
Type: protein-coding
Description: protein phosphatase 2 scaffold subunit Aalpha
Entrez Gene ID: 5518
Genome: hg19
Position: chr19:52,693,305-52,732,771
Genome: hg38
Position: chr19:52,190,052-52,229,518
MIM: 605983 OMIM
HGNC: HGNC:9302 HGNC
Ensembl: ENSG00000105568 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	8	18
Likely pathogenic	4	28
Benign	0	76
Likely benign	0	500
Conflicting classifications of pathogenicity	0	24
not provided	46	10
Uncertain significance	0	276

Ranking

	ClinVar
	0
	0
	74
	800
	6

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	HJS2
SYNONYM	MRD36
SYNONYM	PP2A-Aalpha
SYNONYM	PP2AA
SYNONYM	PP2AAALPHA
SYNONYM	PR65A
MIM	605983 OMIM
HGNC	HGNC:9302 HGNC
Ensembl	ENSG00000105568 Ensembl
AllianceGenome	HGNC:9302

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000454220.7	hg38	chr19	52,190,051	52,226,258	36,208
ENST00000703423.1	hg38	chr19	52,190,410	52,226,398	35,989
ENST00000703422.1	hg38	chr19	52,190,037	52,225,981	35,945
ENST00000703395.1	hg38	chr19	52,170,936	52,226,385	55,450
ENST00000703397.1	hg38	chr19	52,190,052	52,226,398	36,347
ENST00000703398.1	hg38	chr19	52,190,097	52,226,398	36,302
ENST00000477989.1	hg38	chr19	52,190,091	52,191,404	1,314
ENST00000462990.5	hg38	chr19	52,201,093	52,226,417	25,325
ENST00000322088.11	hg38	chr19	52,190,052	52,229,518	39,467
ENST00000454220.7	hg19	chr19	52,693,304	52,729,511	36,208
ENST00000703397.1	hg19	chr19	52,693,305	52,729,651	36,347
ENST00000322088.11	hg19	chr19	52,693,305	52,732,771	39,467
ENST00000477989.1	hg19	chr19	52,693,344	52,694,657	1,314
ENST00000703398.1	hg19	chr19	52,693,350	52,729,651	36,302
ENST00000703395.1	hg19	chr19	52,674,189	52,729,638	55,450
ENST00000462990.5	hg19	chr19	52,704,346	52,729,670	25,325
ENST00000703422.1	hg19	chr19	52,693,290	52,729,234	35,945
ENST00000703423.1	hg19	chr19	52,693,663	52,729,651	35,989

Key	Value
strand	+
start	52,693,054
Vogelstein	OG
Gene Symbol	PPP2R1A
Entrez GeneId	5,518
Chr Band	19q13.41
end	52,729,677
chr	chr19
Name	protein phosphatase 2, regulatory subunit A, alpha

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