SNAP25-AS1

ncRNA

SNAP25 antisense RNA 1, the group of Antisense RNAs

Gene summary

Predicted to be involved in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition. Predicted to be part of signal recognition particle, endoplasmic reticulum targeting. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Congenital myasthenic syndrome 18

Max pathogenic AF

—

Genomic locus

chr20:10,006,381-10,368,848

External References & Databases

Ensembl (ENSG00000227906)

NCBI Gene (100131208)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SNAP25-AS1 variants in ClinVar

16 Conditions Cataloged

Congenital myasthenic syndrome 18Total: 128

Inborn genetic diseasesTotal: 59

not providedTotal: 44

Early infantile epileptic encephalopathy with suppression burstsTotal: 25

SNAP25-related disorderTotal: 2

Unilateral Hypotonia;Intellectual disability;Epilepsy with generalized tonic-clonic seizures;Focal epilepsyTotal: 1

Global developmental delayTotal: 1

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP