GRM5-AS1
Basic information
Region (hg38): 11:88504576-88524054
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (17 variants)
- Inborn genetic diseases (16 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRM5-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 | 17 | 13 | 33 | |||
Total | 0 | 0 | 17 | 13 | 3 |
Variants in GRM5-AS1
This is a list of pathogenic ClinVar variants found in the GRM5-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 |
---|---|---|---|---|
11-88508776-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
11-88508785-T-G | not specified | Uncertain significance (Nov 15, 2021) | ||
11-88508795-C-A | Likely benign (Jan 17, 2018) | |||
11-88508809-C-T | not specified | Uncertain significance (Mar 08, 2024) | ||
11-88508813-C-T | not specified | Uncertain significance (Jul 05, 2022) | ||
11-88508815-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
11-88508825-C-A | not specified | Uncertain significance (Sep 27, 2022) | ||
11-88508859-C-G | Benign (Dec 31, 2019) | |||
11-88508867-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
11-88508877-C-T | Likely benign (Mar 28, 2018) | |||
11-88508898-G-A | Likely benign (Jul 25, 2017) | |||
11-88508912-T-C | not specified | Uncertain significance (Jan 05, 2022) | ||
11-88508975-T-G | not specified | Uncertain significance (Oct 22, 2021) | ||
11-88508978-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
11-88508984-C-T | not specified | Uncertain significance (Jun 11, 2024) | ||
11-88508985-G-A | Likely benign (May 09, 2018) | |||
11-88509031-C-T | Uncertain significance (Jan 04, 2021) | |||
11-88509077-A-G | not specified | Uncertain significance (Mar 25, 2024) | ||
11-88509081-G-A | Likely benign (Apr 13, 2018) | |||
11-88509103-T-G | Likely benign (Dec 07, 2019) | |||
11-88509108-C-G | Likely benign (Feb 01, 2023) | |||
11-88509112-G-A | not specified | Uncertain significance (Jan 07, 2022) | ||
11-88509122-C-T | not specified | Uncertain significance (Mar 28, 2023) | ||
11-88509167-T-C | not specified | Uncertain significance (Jan 05, 2022) | ||
11-88509261-G-C | Likely benign (Dec 31, 2019) |
GnomAD
Source:
dbNSFP
Source: