PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3
Information
- Symbol
- PAFAH1B3
- Type
- protein-coding
- Description
- platelet activating factor acetylhydrolase 1b catalytic subunit 3
- Entrez Gene ID
- 5050
- Genome
- hg19
- Position
- chr19:42,801,187-42,806,776
- Genome
- hg38
- Position
- chr19:42,297,035-42,302,624
- MIM
- 603074 OMIM
- HGNC
- HGNC:8576 HGNC
- Ensembl
- ENSG00000079462 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
association | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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34 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | PAFAHG |
MIM | 603074 OMIM |
HGNC | HGNC:8576 HGNC |
Ensembl | ENSG00000079462 Ensembl |
AllianceGenome | HGNC:8576 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000538771.5 | hg38 | chr19 | 42,297,033 | 42,302,777 | 5,745 |
ENST00000262890.8 | hg38 | chr19 | 42,297,035 | 42,302,624 | 5,590 |
ENST00000538771.5 | hg19 | chr19 | 42,801,185 | 42,806,929 | 5,745 |
ENST00000262890.8 | hg19 | chr19 | 42,801,187 | 42,806,776 | 5,590 |
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