SNAP25-AS1
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Congenital myasthenic syndrome 18 (128 variants)
- Inborn genetic diseases (59 variants)
- not provided (44 variants)
- Early infantile epileptic encephalopathy with suppression bursts (25 variants)
- SNAP25-related disorder (2 variants)
- Unilateral Hypotonia;Intellectual disability;Epilepsy with generalized tonic-clonic seizures;Focal epilepsy (1 variants)
- Global developmental delay (1 variants)
- not specified (1 variants)
- Presynaptic congenital myasthenic syndrome (1 variants)
- SNAP25-related early-onset developmental and epileptic encephalopathy (1 variants)
- Global developmental delay;Optic atrophy;Stereotypic movement disorder;Seizure;Microcephaly (1 variants)
- SNAP25-related condition (1 variants)
- Intellectual disability, severe (1 variants)
- Developmental and epileptic encephalopathy, 2 (1 variants)
- SNAP25 related neurodevelopmental disorder (1 variants)
- Seizure (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNAP25-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 ? | 21 | 98 | 86 | 23 | 231 | |
Total | 3 | 21 | 98 | 86 | 23 |
GnomAD
Source:
dbNSFP
Source: