TRPM2-AS
Basic information
Region (hg38): 21:44414588-44425272
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 TRPM2-AS 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 | 10 | 15 | ||||
Total | 0 | 0 | 10 | 1 | 4 |
Variants in TRPM2-AS
This is a list of pathogenic ClinVar variants found in the TRPM2-AS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
21-44417907-T-C | Benign (Jun 19, 2021) | |||
21-44417953-A-C | not specified | Uncertain significance (Jan 05, 2022) | ||
21-44417954-C-G | not specified | Uncertain significance (Nov 07, 2022) | ||
21-44417993-C-G | not specified | Uncertain significance (Jul 07, 2024) | ||
21-44418018-G-A | not specified | Uncertain significance (Oct 20, 2023) | ||
21-44418028-C-G | not specified | Uncertain significance (Mar 07, 2024) | ||
21-44418060-A-C | not specified | Uncertain significance (Mar 16, 2022) | ||
21-44418084-C-T | not specified | Uncertain significance (Aug 01, 2024) | ||
21-44418094-G-C | not specified | Uncertain significance (May 08, 2024) | ||
21-44418501-G-A | Uncertain significance (Mar 20, 2018) | |||
21-44418749-C-T | Benign (Jun 19, 2021) | |||
21-44423740-C-T | Likely benign (Dec 31, 2019) | |||
21-44424718-C-T | Benign (Jun 19, 2021) | |||
21-44424868-A-A | Benign (Dec 31, 2019) | |||
21-44424879-T-C | not specified | Uncertain significance (Jan 24, 2023) |
GnomAD
Source:
dbNSFP
Source: