SNAP25-AS1

SNAP25 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:10006381-10368848

Links

ENSG00000227906 ∙ NCBI:100131208 ∙ ∙ HGNC:44312 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SNAP25-AS1 gene.

• 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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP