CYP3A7-CYP3A51P
Basic information
Region (hg38): 7:99684956-99735102
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (22 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP3A7-CYP3A51P gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 19 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 19 | 4 | 1 |
Variants in CYP3A7-CYP3A51P
This is a list of pathogenic ClinVar variants found in the CYP3A7-CYP3A51P region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-99705580-G-A | not specified | Uncertain significance (Dec 17, 2023) | ||
| 7-99707864-G-T | not specified | Uncertain significance (Dec 03, 2021) | ||
| 7-99707900-A-G | not specified | Uncertain significance (Oct 20, 2023) | ||
| 7-99707903-C-A | not specified | Uncertain significance (Feb 03, 2022) | ||
| 7-99707915-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
| 7-99707950-G-C | not specified | Uncertain significance (Apr 07, 2022) | ||
| 7-99709134-C-T | not specified | Uncertain significance (May 31, 2023) | ||
| 7-99709175-C-T | not specified | Uncertain significance (Nov 17, 2022) | ||
| 7-99709214-C-T | not specified | Uncertain significance (Jan 31, 2023) | ||
| 7-99709231-A-T | not specified | Likely benign (Oct 18, 2021) | ||
| 7-99710814-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
| 7-99710827-T-C | not specified | Uncertain significance (Mar 23, 2023) | ||
| 7-99710889-A-C | not specified | Uncertain significance (Apr 25, 2022) | ||
| 7-99713475-G-A | not specified | Uncertain significance (Nov 13, 2023) | ||
| 7-99713477-G-T | not specified | Uncertain significance (Jan 31, 2022) | ||
| 7-99714574-C-T | not specified | Uncertain significance (Nov 01, 2022) | ||
| 7-99714599-A-T | not specified | Uncertain significance (Sep 29, 2023) | ||
| 7-99714617-T-C | not specified | Uncertain significance (Aug 02, 2021) | ||
| 7-99714656-G-A | not specified | Likely benign (Dec 13, 2022) | ||
| 7-99715770-C-T | not specified | Uncertain significance (Jan 05, 2022) | ||
| 7-99715775-G-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 7-99715821-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
| 7-99715853-C-T | not specified | Likely benign (Oct 14, 2021) | ||
| 7-99717214-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
| 7-99717532-G-A | Likely benign (Aug 08, 2018) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics.;
- Pathway
- Retinol metabolism - Homo sapiens (human);Steroid hormone biosynthesis - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Citalopram Action Pathway;Methadone Metabolism Pathway;Citalopram Metabolism Pathway;Methadone Action Pathway;Carbamazepine Metabolism Pathway;Levomethadyl Acetate Metabolism Pathway;Vitamin A Deficiency;Retinol Metabolism;Phase I - Functionalization of compounds;Xenobiotics;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Cytochrome P450 - arranged by substrate type;Leukotriene metabolism;Biological oxidations;Metabolism;Linoleate metabolism;C21-steroid hormone biosynthesis and metabolism;Vitamin A (retinol) metabolism;Xenobiotics metabolism;Tryptophan degradation;Arachidonic acid metabolism
(Consensus)