GeneBe

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.

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
3
clinvar
21
clinvar
98
clinvar
86
clinvar
23
clinvar
 231
Total 3 21 98 86 23

Variants in SNAP25-AS1

This is a list of pathogenic ClinVar variants found in the SNAP25-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
20-10038344-A-C not specified Uncertain significance (Oct 20, 2023)3120540
20-10038350-C-A not specified Uncertain significance (May 24, 2024)3295734
20-10038413-G-A not specified Uncertain significance (Aug 17, 2021)2377695
20-10038422-A-G not specified Uncertain significance (May 15, 2023)2546367
20-10038477-A-G not specified Uncertain significance (Mar 16, 2022)2278486
20-10038527-G-A not specified Uncertain significance (Sep 09, 2021)2248865
20-10038537-G-A not specified Uncertain significance (Nov 17, 2022)2388967
20-10038569-G-C not specified Uncertain significance (May 26, 2023)2519751
20-10038578-C-T not specified Uncertain significance (Apr 19, 2023)2530229
20-10038608-G-A not specified Uncertain significance (Nov 30, 2021)2262668
20-10043151-A-G not specified Uncertain significance (Feb 22, 2023)2455252
20-10043169-G-T not specified Uncertain significance (Oct 12, 2021)2350561
20-10043179-C-T not specified Uncertain significance (Aug 22, 2022)2390700
20-10043229-A-T not specified Uncertain significance (Mar 07, 2024)3120546
20-10043280-A-T not specified Uncertain significance (Aug 20, 2023)2609008
20-10043313-A-G not specified Uncertain significance (Dec 27, 2023)3120550
20-10044403-C-T not specified Uncertain significance (Dec 12, 2023)3120552
20-10044404-G-A not specified Uncertain significance (Mar 01, 2023)2459258
20-10044410-C-A not specified Uncertain significance (Jan 06, 2023)2461215
20-10044422-C-T not specified Uncertain significance (Jun 17, 2024)3295695
20-10044490-G-C not specified Uncertain significance (Sep 30, 2021)2219539
20-10044514-C-T not specified Uncertain significance (Jan 17, 2023)2475950
20-10045575-T-C not specified Uncertain significance (Nov 07, 2022)2323199
20-10045578-T-C not specified Uncertain significance (Mar 30, 2022)2369154
20-10045596-A-T not specified Uncertain significance (Feb 16, 2023)2485634

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP