SNCA-AS1
Basic information
Region (hg38): 4:89836394-89842294
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Parkinson Disease, Dominant (11 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNCA-AS1 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 | 11 | |||||
Total | 0 | 0 | 9 | 2 | 0 |
Variants in SNCA-AS1
This is a list of pathogenic ClinVar variants found in the SNCA-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
4-89836947-G-A | Parkinson Disease, Dominant | Likely benign (Jan 13, 2018) | ||
4-89836955-C-T | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89836961-C-T | Parkinson Disease, Dominant | Uncertain significance (Sep 18, 2017) | ||
4-89836976-C-T | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89836978-A-G | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89837051-G-C | Parkinson Disease, Dominant | Uncertain significance (Jan 12, 2018) | ||
4-89837063-G-A | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89837065-C-T | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89837155-C-G | Parkinson Disease, Dominant | Uncertain significance (Jan 12, 2018) | ||
4-89837187-T-G | Parkinson Disease, Dominant | Uncertain significance (Jan 13, 2018) | ||
4-89837210-C-T | Parkinson Disease, Dominant | Likely benign (Jun 14, 2016) |
GnomAD
Source:
dbNSFP
Source: