CENPN-AS1
Basic information
Region (hg38): 16:81016792-81035759
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (14 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CENPN-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 | 14 | 14 | ||||
Total | 0 | 0 | 14 | 0 | 0 |
Variants in CENPN-AS1
This is a list of pathogenic ClinVar variants found in the CENPN-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 |
---|---|---|---|---|
16-81017329-T-C | not specified | Likely benign (Feb 05, 2024) | ||
16-81017333-A-C | not specified | Uncertain significance (Sep 06, 2022) | ||
16-81017343-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
16-81017782-T-G | not specified | Uncertain significance (May 11, 2022) | ||
16-81020104-C-A | not specified | Uncertain significance (Sep 26, 2023) | ||
16-81020167-A-T | not specified | Uncertain significance (Oct 22, 2021) | ||
16-81020205-T-C | not specified | Uncertain significance (Jul 14, 2022) | ||
16-81020209-A-G | not specified | Uncertain significance (Sep 30, 2021) | ||
16-81020233-C-T | not specified | Uncertain significance (Apr 25, 2022) | ||
16-81020263-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
16-81022615-A-C | not specified | Uncertain significance (Nov 08, 2022) | ||
16-81022662-C-G | not specified | Uncertain significance (Jul 15, 2021) | ||
16-81022675-A-G | not specified | Uncertain significance (Nov 17, 2022) | ||
16-81022679-T-C | not specified | Uncertain significance (May 23, 2024) | ||
16-81022684-A-C | not specified | Uncertain significance (Dec 19, 2023) | ||
16-81024737-C-T | not specified | Uncertain significance (Nov 08, 2021) | ||
16-81024742-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
16-81024748-C-A | not specified | Uncertain significance (Aug 02, 2022) | ||
16-81026579-A-G | not specified | Likely benign (Jan 29, 2024) | ||
16-81026585-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
16-81026606-C-G | not specified | Uncertain significance (Dec 16, 2023) | ||
16-81028178-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
16-81028244-T-C | not specified | Uncertain significance (Oct 20, 2023) | ||
16-81028295-C-T | not specified | Uncertain significance (Jun 07, 2023) |
GnomAD
Source:
dbNSFP
Source: