PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2

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Clinical Significance
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Information

Symbol: PAFAH1B2
Type: protein-coding
Description: platelet activating factor acetylhydrolase 1b catalytic subunit 2
Entrez Gene ID: 5049
Genome: hg19
Position: chr11:117,015,003-117,041,761
Genome: hg38
Position: chr11:117,144,287-117,171,045
MIM: 602508 OMIM
HGNC: HGNC:8575 HGNC
Ensembl: ENSG00000168092 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	2
Likely benign	0	2
Uncertain significance	0	6

Ranking

	ClinVar
	0
	0
	0
	10
	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

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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-S-303
MIM	602508 OMIM
HGNC	HGNC:8575 HGNC
Ensembl	ENSG00000168092 Ensembl
AllianceGenome	HGNC:8575

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000530272.1	hg38	chr11	117,144,344	117,176,137	31,794
ENST00000419197.6	hg38	chr11	117,144,284	117,176,874	32,591
ENST00000527958.6	hg38	chr11	117,144,287	117,171,045	26,759
ENST00000529887.6	hg38	chr11	117,144,298	117,176,422	32,125
ENST00000419197.6	hg19	chr11	117,015,000	117,047,590	32,591
ENST00000527958.6	hg19	chr11	117,015,003	117,041,761	26,759
ENST00000529887.6	hg19	chr11	117,015,014	117,047,138	32,125
ENST00000530272.1	hg19	chr11	117,015,060	117,046,853	31,794

Key	Value
strand	+
start	117,014,999
Gene Symbol	PAFAH1B2
Entrez GeneId	5,049
Chr Band	11q23
end	117,048,888
chr	chr11
Name	platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa

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