PDE7B-AS1
Basic information
Region (hg38): 6:135991936-136225751
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (9 variants)
- not provided (5 variants)
- Malignant tumor of prostate (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDE7B-AS1 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 | 10 | 15 | ||||
Total | 0 | 0 | 10 | 0 | 5 |
Variants in PDE7B-AS1
This is a list of pathogenic ClinVar variants found in the PDE7B-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-136108803-G-A | not specified | Uncertain significance (May 11, 2022) | ||
6-136147433-G-A | Benign (Jun 27, 2018) | |||
6-136149088-A-G | not specified | Uncertain significance (Oct 26, 2021) | ||
6-136154165-A-C | not specified | Uncertain significance (Jan 10, 2023) | ||
6-136155644-G-A | Benign (Dec 14, 2017) | |||
6-136155659-G-A | not specified | Uncertain significance (Jan 08, 2024) | ||
6-136155723-A-G | not specified | Uncertain significance (Apr 18, 2023) | ||
6-136173827-C-T | Malignant tumor of prostate | Uncertain significance (-) | ||
6-136173836-A-G | not specified | Uncertain significance (Jul 14, 2021) | ||
6-136173860-C-G | not specified | Uncertain significance (Jul 17, 2023) | ||
6-136173871-T-C | Benign (Aug 20, 2018) | |||
6-136179071-G-C | not specified | Uncertain significance (Feb 06, 2023) | ||
6-136179077-A-G | Benign (Jun 27, 2018) | |||
6-136181230-G-A | not specified | Uncertain significance (Jun 18, 2024) | ||
6-136181230-G-T | not specified | Uncertain significance (Oct 05, 2023) | ||
6-136181267-T-G | not specified | Uncertain significance (Jul 19, 2022) | ||
6-136181305-G-C | not specified | Uncertain significance (Dec 28, 2023) | ||
6-136187075-T-C | not specified | Uncertain significance (Dec 06, 2022) | ||
6-136191773-G-A | not specified | Uncertain significance (Nov 17, 2022) | ||
6-136191810-G-C | not specified | Uncertain significance (Dec 08, 2023) | ||
6-136191833-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
6-136191834-C-G | Benign (May 14, 2018) |
GnomAD
Source:
dbNSFP
Source: