PHLDB3 pleckstrin homology like domain family B member 3
Information
- Symbol
- PHLDB3
- Type
- protein-coding
- Description
- pleckstrin homology like domain family B member 3
- Entrez Gene ID
- 653583
- Genome
- hg19
- Position
- chr19:43,979,255-44,008,898
- Genome
- hg38
- Position
- chr19:43,475,103-43,504,746
- HGNC
- HGNC:30499 HGNC
- Ensembl
- ENSG00000176531 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 10 |
Likely benign | 0 | 10 |
not provided | 1 | 0 |
Uncertain significance | 0 | 92 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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108 |
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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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
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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Category | : |
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Search word | : | |
Filtering | : |
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
|
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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000292140.10 | hg38 | chr19 | 43,475,103 | 43,504,746 | 29,644 |
ENST00000599242.1 | hg38 | chr19 | 43,496,018 | 43,504,935 | 8,918 |
ENST00000292140.10 | hg19 | chr19 | 43,979,255 | 44,008,898 | 29,644 |
ENST00000599242.1 | hg19 | chr19 | 44,000,170 | 44,009,087 | 8,918 |
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