CYP3A51P
pseudocytochrome P450 family 3 subfamily A member 51, pseudogene, the group of Cytochrome P450 family 3
Gene summary
This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A7 and CYP3A5 family members. It contains duplicates of exons 1, 2 and 13 that are found in the functional genes. Readthrough transcription exists between the CYP3A7 gene and this pseudogene, where the readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of this pseudogene, as represented in GeneID:100861540. This pseudogene is not known to be independently transcribed. [provided by RefSeq, Feb 2012]
- CYP3A5P1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CYP3A51P variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
dbNSFP Gene Annotations
Source: