PHB1 prohibitin 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: PHB1
Type: protein-coding
Description: prohibitin 1
Entrez Gene ID: 5245
Genome: hg19
Position: chr17:47,481,434-47,492,246
Genome: hg38
Position: chr17:49,404,072-49,414,884
MIM: 176705 OMIM
HGNC: HGNC:8912 HGNC
Ensembl: ENSG00000167085 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	2
risk factor	0	2
Uncertain significance	0	8

Ranking

	ClinVar
	0
	0
	0
	18
	2

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

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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

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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	HEL-215
SYNONYM	HEL-S-54e
SYNONYM	PHB
MIM	176705 OMIM
HGNC	HGNC:8912 HGNC
Ensembl	ENSG00000167085 Ensembl
AllianceGenome	HGNC:8912

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000300408.8	hg38	chr17	49,404,052	49,414,882	10,831
ENST00000504124.6	hg38	chr17	49,404,072	49,414,876	10,805
ENST00000696365.1	hg38	chr17	49,404,049	49,414,905	10,857
ENST00000419140.7	hg38	chr17	49,404,072	49,414,848	10,777
ENST00000511832.6	hg38	chr17	49,404,052	49,414,802	10,751
ENST00000446735.6	hg38	chr17	49,404,072	49,413,291	9,220
ENST00000614445.5	hg38	chr17	49,404,072	49,414,884	10,813
ENST00000617874.5	hg38	chr17	49,404,072	49,414,858	10,787
ENST00000696365.1	hg19	chr17	47,481,411	47,492,267	10,857
ENST00000511832.6	hg19	chr17	47,481,414	47,492,164	10,751
ENST00000300408.8	hg19	chr17	47,481,414	47,492,244	10,831
ENST00000446735.6	hg19	chr17	47,481,434	47,490,653	9,220
ENST00000419140.7	hg19	chr17	47,481,434	47,492,210	10,777
ENST00000617874.5	hg19	chr17	47,481,434	47,492,220	10,787
ENST00000504124.6	hg19	chr17	47,481,434	47,492,238	10,805
ENST00000614445.5	hg19	chr17	47,481,434	47,492,246	10,813

Key	Value
strand	-
UniProt	OG
start	47,481,409
Gene Symbol	PHB
Entrez GeneId	5,245
Chr Band	17q21
end	47,492,266
chr	chr17

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