CD81-AS1
Basic information
Region (hg38): 11:2328749-2377992
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 CD81-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 | 1 | 1 | ||||
non coding | 13 | |||||
Total | 0 | 0 | 6 | 5 | 2 |
Variants in CD81-AS1
This is a list of pathogenic ClinVar variants found in the CD81-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 |
---|---|---|---|---|
11-2377192-T-C | Benign (Nov 10, 2018) | |||
11-2377547-G-A | Uncertain significance (Apr 01, 2018) | |||
11-2377556-G-C | Uncertain significance (Nov 27, 2024) | |||
11-2377558-G-C | CD81-related disorder | Likely benign (Jul 02, 2024) | ||
11-2377560-A-G | Uncertain significance (Nov 13, 2024) | |||
11-2377572-A-G | Uncertain significance (Jan 19, 2023) | |||
11-2377575-G-A | Uncertain significance (Mar 04, 2022) | |||
11-2377576-C-T | Likely benign (Jul 17, 2024) | |||
11-2377586-C-T | Likely benign (Mar 20, 2021) | |||
11-2377589-C-T | Uncertain significance (Aug 12, 2024) | |||
11-2377591-C-G | Likely benign (Feb 20, 2024) | |||
11-2377597-C-G | Likely benign (Nov 27, 2023) | |||
11-2377598-T-C | not specified | Uncertain significance (Aug 28, 2024) | ||
11-2377609-C-T | Likely benign (Feb 20, 2024) | |||
11-2377619-A-G | Uncertain significance (Jun 23, 2022) | |||
11-2377626-C-G | Likely benign (Oct 24, 2024) | |||
11-2377629-CG-C | Benign (Apr 05, 2024) | |||
11-2377634-G-T | Likely benign (Feb 11, 2024) |
GnomAD
Source:
dbNSFP
Source: