MIR7108
Basic information
Region (hg38): 19:2434914-2435000
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR7108 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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in MIR7108
This is a list of pathogenic ClinVar variants found in the MIR7108 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-2434921-G-A | Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to | Likely benign (Aug 24, 2023) | ||
19-2434923-G-A | Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 | Likely benign (Jan 13, 2022) | ||
19-2434925-C-T | Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to | Likely benign (Oct 19, 2022) | ||
19-2434927-G-C | Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 | Benign (Dec 11, 2023) | ||
19-2434930-G-A | Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 | Likely benign (Dec 16, 2020) | ||
19-2434943-C-T | Benign (Jun 19, 2021) | |||
19-2434985-C-T | Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to | Likely benign (Dec 13, 2023) | ||
19-2434986-G-A | Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 | Uncertain significance (Oct 17, 2022) | ||
19-2434987-C-T | Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to | Likely benign (Dec 26, 2020) | ||
19-2434990-G-T | not specified | Likely benign (Jun 21, 2024) | ||
19-2434992-C-A | Progressive myoclonic epilepsy type 9;Lipodystrophy, partial, acquired, susceptibility to | Likely benign (Aug 27, 2020) | ||
19-2434993-G-A | Lipodystrophy, partial, acquired, susceptibility to;Progressive myoclonic epilepsy type 9 • LMNB2-related disorder • not specified | Benign/Likely benign (Nov 13, 2024) |
GnomAD
Source:
dbNSFP
Source: