MIR17HG
Basic information
Region (hg38): 13:91347686-91397592
Previous symbols: [ "C13orf25", "MIRHG1" ]
Links
Phenotypes
GenCC
Source:
- Feingold syndrome type 2 (Strong), mode of inheritance: AD
- Feingold syndrome type 2 (Limited), mode of inheritance: AD
- Feingold syndrome type 2 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Feingold syndrome 2 | AD | Cardiovascular | The condition can involve congenital cardiac anomalies, and awareness may allow early management | Cardiovascular; Endocrine; Musculoskeletal; Neurologic | 21892160; 30672094 |
ClinVar
This is a list of variants' phenotypes submitted to
- MIR17HG-related condition (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR17HG 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 | 5 | |||||
Total | 0 | 0 | 5 | 0 | 0 |
Variants in MIR17HG
This is a list of pathogenic ClinVar variants found in the MIR17HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
13-91349749-A-C | MIR17HG-related disorder | Uncertain significance (Oct 14, 2022) | ||
13-91349893-A-G | MIR17HG-related disorder | Likely benign (Dec 30, 2021) | ||
13-91350002-C-T | MIR17HG-related disorder | Likely benign (Jan 26, 2023) | ||
13-91350247-C-CT | MIR17HG-related disorder | Likely benign (Dec 31, 2021) | ||
13-91350393-C-G | MIR17HG-related disorder | Benign (Dec 26, 2019) | ||
13-91350551-A-G | MIR17HG-related disorder | Likely benign (Jan 21, 2021) | ||
13-91350566-AAAG-A | MIR17HG-related disorder | Uncertain significance (Jun 13, 2023) | ||
13-91350844-A-G | MIR17HG-related disorder | Likely benign (Jun 29, 2022) | ||
13-91351007-G-T | MIR17HG-related disorder | Likely benign (Apr 01, 2019) | ||
13-91351511-ATCTTG-A | MIR17HG-related disorder | Uncertain significance (Feb 14, 2023) | ||
13-91351555-C-T | MIR17HG-related disorder | Likely benign (Apr 16, 2019) | ||
13-91352583-T-C | MIR17HG-related disorder | Uncertain significance (May 16, 2024) | ||
13-91352721-C-T | MIR17HG-related disorder | Uncertain significance (Aug 12, 2023) | ||
13-91352883-C-T | MIR17HG-related disorder | Benign (Oct 28, 2019) | ||
13-91353079-C-T | MIR17HG-related disorder | Likely benign (Apr 04, 2024) | ||
13-91353141-C-A | MIR17HG-related disorder | Likely benign (Aug 30, 2023) | ||
13-91353146-T-C | MIR17HG-related disorder | Likely benign (Sep 19, 2024) | ||
13-91353384-A-G | MIR17HG-related disorder | Likely benign (Jan 03, 2023) | ||
13-91353632-A-G | MIR17HG-related disorder | Uncertain significance (Feb 27, 2024) | ||
13-91354055-T-C | MIR17HG-related disorder | Uncertain significance (Jul 26, 2023) | ||
13-91354083-T-G | MIR17HG-related disorder | Likely benign (May 20, 2023) | ||
13-91354178-TTTAG-T | MIR17HG-related disorder | Likely benign (Apr 04, 2024) | ||
13-91354199-G-A | MIR17HG-related disorder | Uncertain significance (Apr 11, 2024) | ||
13-91354568-T-C | MIR17HG-related disorder | Likely benign (Nov 05, 2021) |
GnomAD
Source:
dbNSFP
Source:
- Pathway
- miRNA Regulation of DNA Damage Response
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.165
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Mir17hg
- Phenotype
Gene ontology
- Biological process
- Cellular component
- integral component of membrane
- Molecular function