PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1
Information
- Symbol
- PITPNC1
- Type
- protein-coding
- Description
- phosphatidylinositol transfer protein cytoplasmic 1
- Entrez Gene ID
- 26207
- Genome
- hg19
- Position
- chr17:65,373,397-65,693,372
- Genome
- hg38
- Position
- chr17:67,377,281-67,697,256
- MIM
- 605134 OMIM
- HGNC
- HGNC:21045 HGNC
- Ensembl
- ENSG00000154217 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
20 |
 |
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
Search Word
| 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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | M-RDGB-beta |
| SYNONYM | MRDGBbeta |
| SYNONYM | RDGB-BETA |
| SYNONYM | RDGBB |
| SYNONYM | RDGBB1 |
| MIM | 605134 OMIM |
| HGNC | HGNC:21045 HGNC |
| Ensembl | ENSG00000154217 Ensembl |
| AllianceGenome | HGNC:21045 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000581322.6 | hg38 | chr17 | 67,377,281 | 67,697,256 | 319,976 |
| ENST00000580974.6 | hg38 | chr17 | 67,377,281 | 67,697,256 | 319,976 |
| ENST00000580974.6 | hg19 | chr17 | 65,373,397 | 65,693,372 | 319,976 |
| ENST00000581322.6 | hg19 | chr17 | 65,373,397 | 65,693,372 | 319,976 |
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