CHRM3-AS1
Basic information
Region (hg38): 1:239898016-239953112
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 CHRM3-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 CHRM3-AS1
This is a list of pathogenic ClinVar variants found in the CHRM3-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 |
---|---|---|---|---|
1-239907303-T-C | Benign (Nov 12, 2018) | |||
1-239907453-T-G | Prune belly syndrome | Uncertain significance (Mar 11, 2024) | ||
1-239907460-G-A | Likely benign (Mar 14, 2023) | |||
1-239907463-C-T | Likely benign (May 09, 2024) | |||
1-239907480-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
1-239907514-A-G | not specified | Uncertain significance (Oct 01, 2024) | ||
1-239907527-G-A | Prune belly syndrome | Uncertain significance (Mar 08, 2024) | ||
1-239907543-C-G | Uncertain significance (Oct 17, 2022) | |||
1-239907543-C-T | not specified | Uncertain significance (Dec 09, 2024) | ||
1-239907544-G-A | Likely benign (Mar 27, 2022) | |||
1-239907563-G-A | Prune belly syndrome | Uncertain significance (Mar 06, 2024) | ||
1-239907563-G-C | Prune belly syndrome | Uncertain significance (May 22, 2024) | ||
1-239907572-A-G | not specified | Uncertain significance (Aug 08, 2022) | ||
1-239907573-A-G | Prune belly syndrome | Uncertain significance (May 13, 2024) | ||
1-239907582-G-A | Prune belly syndrome | Uncertain significance (Jun 24, 2024) | ||
1-239907610-C-T | CHRM3-related disorder | Benign (Apr 15, 2024) | ||
1-239907615-C-T | not specified | Uncertain significance (Nov 10, 2024) | ||
1-239907643-C-T | CHRM3-related disorder | Likely benign (Jun 28, 2024) | ||
1-239907644-G-A | Benign (Jan 20, 2025) | |||
1-239907665-G-A | Uncertain significance (Mar 13, 2022) | |||
1-239907734-G-A | not specified • Prune belly syndrome | Uncertain significance (Jan 09, 2024) | ||
1-239907779-C-T | Prune belly syndrome | Likely benign (Oct 22, 2024) | ||
1-239907803-G-A | Prune belly syndrome | Pathogenic (Aug 04, 2020) | ||
1-239907820-T-C | Likely benign (Apr 12, 2023) | |||
1-239907835-C-T | Likely benign (Jun 15, 2018) |
GnomAD
Source:
dbNSFP
Source: