CASC15
Basic information
Region (hg38): 6:21664164-22660021
Previous symbols: [ "LINC00340" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (18 variants)
- not provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASC15 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 | 16 | 22 | ||||
Total | 0 | 0 | 16 | 3 | 3 |
Variants in CASC15
This is a list of pathogenic ClinVar variants found in the CASC15 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-22287456-G-A | Likely benign (Mar 29, 2018) | |||
6-22287467-A-C | not specified | Uncertain significance (Jan 22, 2024) | ||
6-22290233-C-T | not specified | Likely benign (Apr 13, 2022) | ||
6-22290279-T-G | not specified | Uncertain significance (Apr 01, 2024) | ||
6-22292550-G-A | Benign (Jan 25, 2018) | |||
6-22292568-G-A | Benign (Mar 29, 2018) | |||
6-22292572-G-A | not specified | Uncertain significance (Sep 13, 2023) | ||
6-22292587-G-A | not specified | Uncertain significance (May 16, 2024) | ||
6-22292590-T-C | not specified | Uncertain significance (Nov 12, 2021) | ||
6-22292623-C-A | not specified | Uncertain significance (Oct 17, 2023) | ||
6-22292624-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
6-22292638-C-T | not specified | Likely benign (Oct 20, 2021) | ||
6-22294443-A-G | not specified | Uncertain significance (Mar 25, 2024) | ||
6-22294535-C-T | Benign (Jan 25, 2018) | |||
6-22569583-C-T | not specified | Uncertain significance (Feb 27, 2023) | ||
6-22569588-G-A | not specified | Uncertain significance (Mar 28, 2023) | ||
6-22569640-A-G | not specified | Uncertain significance (Dec 08, 2023) | ||
6-22569663-G-C | not specified | Uncertain significance (Jun 16, 2023) | ||
6-22569739-G-A | not specified | Likely benign (Dec 21, 2022) | ||
6-22569784-A-G | not specified | Uncertain significance (Jan 09, 2024) | ||
6-22569850-A-G | not specified | Uncertain significance (Jun 13, 2022) | ||
6-22569855-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
6-22569861-G-A | not specified | Uncertain significance (Jul 12, 2023) | ||
6-22569864-T-G | not specified | Uncertain significance (Aug 30, 2022) | ||
6-22569915-G-A | not specified | Uncertain significance (Apr 09, 2024) |
GnomAD
Source:
dbNSFP
Source: