MIR6084
Basic information
Region (hg38): 1:20633679-20633788
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Autosomal recessive early-onset Parkinson disease 6 (15 variants)
- not provided (4 variants)
- Inborn genetic diseases (4 variants)
- not specified (1 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIR6084 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 | 14 | 19 | ||||
Total | 0 | 0 | 14 | 4 | 1 |
Variants in MIR6084
This is a list of pathogenic ClinVar variants found in the MIR6084 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-20633687-G-C | Autosomal recessive early-onset Parkinson disease 6 • See cases • Inborn genetic diseases | Uncertain significance (May 16, 2022) | ||
1-20633689-C-G | Autosomal recessive early-onset Parkinson disease 6 | Likely benign (Dec 12, 2023) | ||
1-20633701-A-G | Autosomal recessive early-onset Parkinson disease 6 | Likely benign (Aug 03, 2023) | ||
1-20633703-C-T | Uncertain significance (Jul 17, 2018) | |||
1-20633706-G-A | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Mar 01, 2022) | ||
1-20633709-C-A | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Nov 04, 2019) | ||
1-20633713-G-A | Autosomal recessive early-onset Parkinson disease 6 | Conflicting classifications of pathogenicity (Nov 12, 2023) | ||
1-20633717-C-T | Uncertain significance (Aug 01, 2016) | |||
1-20633717-C-CGCAGGG | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Aug 17, 2022) | ||
1-20633721-G-A | Autosomal recessive early-onset Parkinson disease 6 • Inborn genetic diseases | Uncertain significance (Feb 21, 2024) | ||
1-20633725-C-T | Autosomal recessive early-onset Parkinson disease 6 | Likely benign (Dec 15, 2021) | ||
1-20633732-G-C | Autosomal recessive early-onset Parkinson disease 6 • Inborn genetic diseases | Uncertain significance (Jul 11, 2022) | ||
1-20633737-C-T | not specified • Autosomal recessive early-onset Parkinson disease 6 | Benign (Jul 31, 2024) | ||
1-20633744-C-T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
1-20633747-C-T | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Apr 12, 2022) | ||
1-20633750-C-T | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Jul 31, 2022) | ||
1-20633751-GC-CT | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Jan 24, 2024) | ||
1-20633766-C-T | Autosomal recessive early-onset Parkinson disease 6 | Uncertain significance (Apr 22, 2023) | ||
1-20633771-G-T | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) | ||
1-20633789-T-C | Likely benign (Dec 01, 2022) |
GnomAD
Source:
dbNSFP
Source: