AKT1S1 AKT1 substrate 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Variants
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Information

Symbol: AKT1S1
Type: protein-coding
Description: AKT1 substrate 1
Entrez Gene ID: 84335
Genome: hg19
Position: chr19:50,372,303-50,381,285
Genome: hg38
Position: chr19:49,869,046-49,878,028
MIM: 610221 OMIM
HGNC: HGNC:28426 HGNC
Ensembl: ENSG00000204673 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	4
Likely benign	0	6
Uncertain significance	0	48

Ranking

	ClinVar
	0
	0
	0
	58
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

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

Search Word

Target data	:	MGeND data only
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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
Category	:
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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	Lobe
SYNONYM	PRAS40
MIM	610221 OMIM
HGNC	HGNC:28426 HGNC
Ensembl	ENSG00000204673 Ensembl
AllianceGenome	HGNC:28426

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000344175.10	hg38	chr19	49,869,039	49,877,355	8,317
ENST00000391831.5	hg38	chr19	49,869,046	49,876,249	7,204
ENST00000391835.1	hg38	chr19	49,869,046	49,878,028	8,983
ENST00000391834.6	hg38	chr19	49,869,033	49,878,356	9,324
ENST00000391833.5	hg38	chr19	49,869,038	49,875,285	6,248
ENST00000391832.7	hg38	chr19	49,869,039	49,877,279	8,241
ENST00000391834.6	hg19	chr19	50,372,290	50,381,613	9,324
ENST00000391833.5	hg19	chr19	50,372,295	50,378,542	6,248
ENST00000391832.7	hg19	chr19	50,372,296	50,380,536	8,241
ENST00000344175.10	hg19	chr19	50,372,296	50,380,612	8,317
ENST00000391831.5	hg19	chr19	50,372,303	50,379,506	7,204
ENST00000391835.1	hg19	chr19	50,372,303	50,381,285	8,983

Key	Value
strand	-
start	50,372,289
Gene Symbol	AKT1S1
Entrez GeneId	84,335
Chr Band	19q13.33
end	50,381,612
chr	chr19

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