GHRLOS
Basic information
Region (hg38): 3:10285754-10294903
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (8 variants)
- Inborn genetic diseases (7 variants)
- Obesity (4 variants)
- Metabolic syndrome, susceptibility to (2 variants)
- Obesity, age at onset of (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GHRLOS 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 | 15 | |||||
Total | 0 | 0 | 9 | 1 | 5 |
Variants in GHRLOS
This is a list of pathogenic ClinVar variants found in the GHRLOS region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-10286566-A-C | Benign (Nov 12, 2018) | |||
3-10286724-A-T | not specified | Uncertain significance (Oct 25, 2022) | ||
3-10286758-G-C | not specified | Uncertain significance (May 28, 2024) | ||
3-10286769-T-A | Obesity | Benign (Jun 09, 2021) | ||
3-10286773-C-T | not specified | Uncertain significance (Jan 31, 2022) | ||
3-10286782-GC-G | Obesity | Uncertain significance (Aug 12, 2021) | ||
3-10286799-A-G | not specified | Uncertain significance (Feb 14, 2024) | ||
3-10287098-G-A | Benign (Nov 12, 2018) | |||
3-10287125-T-C | Benign (Nov 12, 2018) | |||
3-10289760-A-C | Uncertain significance (Jul 01, 2022) | |||
3-10289764-G-A | not specified | Uncertain significance (Jul 26, 2024) | ||
3-10289773-G-T | Metabolic syndrome, susceptibility to • Obesity, age at onset of • Inherited obesity • Obesity | Conflicting classifications of pathogenicity (Dec 19, 2024) | ||
3-10289785-C-A | not specified | Uncertain significance (Dec 26, 2023) | ||
3-10289811-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
3-10289814-C-T | not specified | Likely benign (Jan 18, 2023) | ||
3-10289820-C-A | not specified | Uncertain significance (Dec 22, 2023) | ||
3-10289835-C-T | Metabolic syndrome, susceptibility to • Obesity | risk factor (Dec 01, 2005) | ||
3-10289914-C-T | Benign (Jun 20, 2021) | |||
3-10290074-T-C | not specified | Uncertain significance (Apr 12, 2023) | ||
3-10290080-C-G | not specified | Uncertain significance (Oct 17, 2023) | ||
3-10290098-A-G | not specified | Uncertain significance (Jun 21, 2023) | ||
3-10292847-C-T | not specified | Uncertain significance (Feb 13, 2023) | ||
3-10292863-G-A | Likely benign (Jul 01, 2024) |
GnomAD
Source:
dbNSFP
Source: