CAMTA2-AS1
Basic information
Region (hg38): 17:4986466-4992170
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 CAMTA2-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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in CAMTA2-AS1
This is a list of pathogenic ClinVar variants found in the CAMTA2-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 |
---|---|---|---|---|
17-4987635-C-T | Uncertain significance (Sep 13, 2022) | |||
17-4988439-G-A | not specified | Uncertain significance (Jan 16, 2024) | ||
17-4988511-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
17-4988526-T-C | not specified | Likely benign (Apr 28, 2022) | ||
17-4988533-G-A | not specified | Uncertain significance (Mar 02, 2023) | ||
17-4988535-C-G | not specified | Uncertain significance (Aug 07, 2023) | ||
17-4988840-T-A | not specified | Uncertain significance (Dec 12, 2023) | ||
17-4988844-G-C | not specified | Uncertain significance (Oct 10, 2023) | ||
17-4988858-T-C | not specified | Uncertain significance (Feb 06, 2023) | ||
17-4988888-C-T | not specified | Likely benign (Aug 12, 2021) | ||
17-4988916-C-T | not specified | Uncertain significance (Feb 15, 2023) | ||
17-4989542-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
17-4989547-C-G | not specified | Uncertain significance (May 24, 2024) | ||
17-4989591-G-A | not specified | Uncertain significance (Apr 08, 2024) | ||
17-4989901-G-T | not specified | Uncertain significance (Mar 29, 2023) | ||
17-4990169-G-C | not specified | Uncertain significance (Dec 21, 2023) | ||
17-4990195-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
17-4990233-G-C | not specified | Uncertain significance (May 09, 2023) | ||
17-4990234-G-C | not specified | Uncertain significance (Dec 28, 2022) | ||
17-4990249-T-C | not specified | Uncertain significance (Apr 05, 2023) | ||
17-4990268-G-A | Likely benign (Mar 01, 2023) |
GnomAD
Source:
dbNSFP
Source: