INMT-MINDY4
Basic information
Region (hg38): 7:30752137-30892081
Previous symbols: [ "INMT-FAM188B" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (32 variants)
- not provided (9 variants)
- Malignant tumor of prostate (1 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the INMT-MINDY4 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 | 31 | 43 | ||||
| Total | 0 | 0 | 31 | 5 | 7 |
Variants in INMT-MINDY4
This is a list of pathogenic ClinVar variants found in the INMT-MINDY4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-30752157-G-A | not specified | Uncertain significance (Nov 13, 2023) | ||
| 7-30752203-G-C | not specified | Uncertain significance (Aug 19, 2024) | ||
| 7-30752248-C-A | not specified | Uncertain significance (Dec 20, 2022) | ||
| 7-30752256-G-A | not specified | Uncertain significance (Sep 27, 2024) | ||
| 7-30752277-G-A | not specified | Uncertain significance (Mar 23, 2022) | ||
| 7-30752293-C-T | not specified | Uncertain significance (Mar 31, 2024) | ||
| 7-30753773-C-T | not specified | Uncertain significance (Nov 09, 2024) | ||
| 7-30753806-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
| 7-30753828-C-T | Benign (Jul 15, 2018) | |||
| 7-30753838-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
| 7-30753850-G-A | not specified | Uncertain significance (Jul 12, 2023) | ||
| 7-30753880-C-A | not specified | Uncertain significance (Aug 04, 2023) | ||
| 7-30753915-C-T | Benign (Nov 20, 2018) | |||
| 7-30753916-G-A | Benign (Jul 15, 2018) | |||
| 7-30755415-T-A | Likely benign (Nov 20, 2018) | |||
| 7-30755422-C-A | not specified | Uncertain significance (Nov 12, 2021) | ||
| 7-30755426-C-T | Benign (Jul 31, 2018) | |||
| 7-30755429-T-C | not specified | Uncertain significance (Sep 14, 2022) | ||
| 7-30755459-G-A | not specified | Likely benign (Nov 08, 2022) | ||
| 7-30755468-C-T | not specified | Uncertain significance (May 09, 2023) | ||
| 7-30755480-T-C | not specified | Uncertain significance (Nov 22, 2023) | ||
| 7-30755494-G-A | Benign (May 08, 2018) | |||
| 7-30755550-T-C | not specified | Uncertain significance (Jul 02, 2024) | ||
| 7-30755561-T-C | not specified | Uncertain significance (Nov 20, 2023) | ||
| 7-30755585-T-A | not specified | Uncertain significance (Aug 27, 2024) |
GnomAD
Source:
dbNSFP
Source:
Haploinsufficiency Scores
- pHI
- hipred
- hipred_score
- ghis
- 0.400
Gene ontology
- Biological process
- methylation
- Cellular component
- cytoplasm;cytosol
- Molecular function
- amine N-methyltransferase activity