PRR15-DT
Basic information
Region (hg38): 7:29471325-29685255
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR15-DT 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 | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in PRR15-DT
This is a list of pathogenic ClinVar variants found in the PRR15-DT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-29496012-A-G | not specified | Uncertain significance (May 14, 2024) | ||
| 7-29499881-G-A | not specified | Uncertain significance (Jul 05, 2024) | ||
| 7-29499961-C-T | CHN2-related disorder | Benign (Jun 13, 2019) | ||
| 7-29499997-A-C | not specified | Uncertain significance (Jul 17, 2023) | ||
| 7-29499998-C-T | not specified | Uncertain significance (Jan 01, 2025) | ||
| 7-29500023-G-A | not specified | Uncertain significance (Dec 06, 2022) | ||
| 7-29504721-GTCTC-G | CHN2-related disorder | Likely benign (Aug 24, 2023) | ||
| 7-29504792-T-A | not specified | Uncertain significance (Jul 19, 2023) | ||
| 7-29507241-C-T | CHN2-related disorder | Likely benign (Jul 26, 2022) | ||
| 7-29507242-G-A | CHN2-related disorder | Likely benign (Apr 01, 2022) | ||
| 7-29507255-A-G | not specified | Uncertain significance (Aug 20, 2024) | ||
| 7-29509310-A-G | not specified | Uncertain significance (Sep 05, 2024) | ||
| 7-29509318-G-A | not specified | Uncertain significance (Aug 20, 2024) | ||
| 7-29509332-C-T | CHN2-related disorder | Likely benign (Jun 28, 2019) | ||
| 7-29509381-C-T | not specified | Uncertain significance (Feb 06, 2024) | ||
| 7-29509403-A-G | not specified | Uncertain significance (Aug 13, 2021) | ||
| 7-29512577-G-A | not specified | Uncertain significance (Aug 20, 2024) | ||
| 7-29512597-T-C | CHN2-related disorder | Benign (Jul 18, 2019) | ||
| 7-29512616-G-A | not specified | Uncertain significance (Jun 21, 2023) | ||
| 7-29512640-C-T | CHN2-related disorder | Benign (May 25, 2018) | ||
| 7-29512695-T-C | not specified | Uncertain significance (Nov 10, 2024) | ||
| 7-29512709-A-G | Neuropathy, congenital hypomyelinating, 2 | Uncertain significance (Mar 26, 2024) | ||
| 7-29566336-G-A | not specified | Uncertain significance (Jun 13, 2023) | ||
| 7-29566345-G-A | not specified | Uncertain significance (Dec 12, 2023) | ||
| 7-29566379-T-C | not specified | Uncertain significance (Jan 24, 2025) |
GnomAD
Source:
dbNSFP
Source: