GeneBe

SAP30L-AS1

SAP30L antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 5:154325568-154445855

Links

ENSG00000245275 ∙ NCBI:386627 ∙ ∙ HGNC:26760 ∙ ∙ ∙ 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 SAP30L-AS1 gene.

  • Inborn genetic diseases (22 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAP30L-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
22
clinvar
1
clinvar
1
clinvar
 24
Total 0 0 22 1 1

Variants in SAP30L-AS1

This is a list of pathogenic ClinVar variants found in the SAP30L-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
5-154329585-C-T not specified Uncertain significance (Apr 07, 2023)2509618
5-154329658-G-T not specified Uncertain significance (Jul 20, 2021)2238488
5-154329663-G-A not specified Uncertain significance (Sep 01, 2021)2248457
5-154329679-A-G not specified Uncertain significance (Aug 13, 2021)2341235
5-154329693-G-C not specified Uncertain significance (May 27, 2022)2292502
5-154329699-G-C not specified Uncertain significance (Jul 13, 2022)2301611
5-154329721-A-C not specified Uncertain significance (Feb 22, 2023)2487731
5-154376306-A-G not specified Uncertain significance (Apr 06, 2022)2391686
5-154376312-C-T not specified Uncertain significance (Jun 09, 2022)2294568
5-154376348-C-T not specified Uncertain significance (Mar 25, 2022)2279870
5-154376390-G-T not specified Uncertain significance (Aug 12, 2021)2394680
5-154380499-T-C not specified Uncertain significance (Dec 06, 2021)2213051
5-154380516-C-T not specified Uncertain significance (Sep 13, 2023)2623232
5-154380547-G-A not specified Uncertain significance (Aug 17, 2022)2371125
5-154380579-C-T not specified Uncertain significance (Feb 06, 2024)3098047
5-154380592-C-T not specified Uncertain significance (Feb 21, 2024)3098048
5-154404123-G-A not specified Uncertain significance (Feb 13, 2024)3098044
5-154409577-T-G GALNT10-related disorder Uncertain significance (Jul 24, 2024)3344106
5-154409580-G-A not specified Uncertain significance (Mar 28, 2024)3280520
5-154409732-C-T GALNT10-related disorder Likely benign (Oct 03, 2022)3044264
5-154409733-G-A not specified Uncertain significance (Nov 17, 2022)2345173
5-154412893-G-A Likely benign (Mar 30, 2018)722370
5-154412967-G-A not specified Likely benign (May 07, 2024)3280521
5-154412971-G-C not specified Uncertain significance (Apr 12, 2022)2283209
5-154412977-G-A not specified Uncertain significance (May 22, 2023)2549348

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP