MIR100HG
Basic information
Region (hg38): 11:122028325-122556721
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR100HG 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 | 8 | |||||
Total | 0 | 0 | 8 | 0 | 0 |
Variants in MIR100HG
This is a list of pathogenic ClinVar variants found in the MIR100HG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-122115622-A-G | not specified | Uncertain significance (Mar 21, 2023) | ||
11-122115633-A-C | not specified | Uncertain significance (May 28, 2024) | ||
11-122115651-T-A | not specified | Uncertain significance (Mar 20, 2024) | ||
11-122115672-T-G | not specified | Uncertain significance (Feb 14, 2023) | ||
11-122115693-A-C | not specified | Uncertain significance (Nov 10, 2022) | ||
11-122115732-A-T | not specified | Uncertain significance (Dec 17, 2023) | ||
11-122115777-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
11-122115792-C-T | not specified | Uncertain significance (Dec 06, 2021) | ||
11-122115810-T-C | not specified | Uncertain significance (May 08, 2024) | ||
11-122115831-C-T | not specified | Uncertain significance (Dec 03, 2021) | ||
11-122115886-G-A | not specified | Uncertain significance (Aug 08, 2022) | ||
11-122115887-T-C | not specified | Uncertain significance (Oct 26, 2022) |
GnomAD
Source:
dbNSFP
Source:
Mouse Genome Informatics
- Gene name
- 3110039I08Rik
- Phenotype