MIR936
Basic information
Region (hg38): 10:104048089-104048186
Previous symbols: [ "MIRN936" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
- Junctional epidermolysis bullosa (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR936 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 | 2 | |||||
Total | 0 | 1 | 0 | 0 | 1 |
Variants in MIR936
This is a list of pathogenic ClinVar variants found in the MIR936 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-104048097-A-C | Benign (Jan 28, 2024) | |||
10-104048097-AGCAGGACCTG-CAA | Junctional epidermolysis bullosa | Pathogenic/Likely pathogenic (Aug 17, 2016) | ||
10-104048115-A-G | Likely benign (Sep 03, 2023) | |||
10-104048118-A-G | Likely benign (Oct 09, 2023) | |||
10-104048120-C-T | Likely benign (Sep 05, 2023) | |||
10-104048124-G-A | Likely benign (Dec 14, 2023) | |||
10-104048124-G-C | Likely benign (Feb 27, 2023) | |||
10-104048124-G-T | Likely benign (Jan 27, 2024) |
GnomAD
Source:
dbNSFP
Source: