GeneBe

SEMA6A-AS1

SEMA6A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:116432500-116552198

Links

ENSG00000248445 ∙ NCBI:101927233 ∙ ∙ HGNC:51110 ∙ ∙ ∙ 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 SEMA6A-AS1 gene.

  • Inborn genetic diseases (25 variants)
  • not provided (9 variants)
  • Delayed puberty, self-limited (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEMA6A-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
1
clinvar
25
clinvar
4
clinvar
5
clinvar
 35
Total 0 1 25 4 5

Variants in SEMA6A-AS1

This is a list of pathogenic ClinVar variants found in the SEMA6A-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
5-116446678-C-T not specified Uncertain significance (Oct 27, 2021)2257541
5-116446689-A-C not specified Uncertain significance (May 23, 2023)2550649
5-116446698-G-A not specified Uncertain significance (Nov 15, 2021)2382717
5-116446708-G-C not specified Uncertain significance (Aug 08, 2022)2305523
5-116446711-C-T not specified Uncertain significance (Oct 09, 2024)3439566
5-116446720-T-A not specified Uncertain significance (Mar 10, 2025)3794162
5-116446792-G-A not specified Uncertain significance (Aug 12, 2021)2358517
5-116446797-T-G Benign/Likely benign (Oct 01, 2023)718147
5-116446834-T-G not specified Uncertain significance (May 06, 2024)3317388
5-116446868-G-T not specified Uncertain significance (Jan 09, 2025)3794166
5-116446912-T-A not specified Uncertain significance (Aug 02, 2022)2305055
5-116446915-C-G Likely benign (Jan 18, 2018)712532
5-116446915-C-T not specified Uncertain significance (Sep 27, 2021)2252186
5-116446933-G-A not specified Uncertain significance (Jun 07, 2023)2558483
5-116446955-C-G not specified Uncertain significance (Apr 07, 2023)2534919
5-116446999-G-A not specified Uncertain significance (Mar 05, 2024)3159892
5-116447028-G-T not specified Uncertain significance (Dec 27, 2023)3159891
5-116447034-G-A Likely benign (Jul 20, 2018)713698
5-116447034-G-T not specified Uncertain significance (Feb 05, 2024)3159890
5-116447074-G-T not specified Uncertain significance (Nov 26, 2024)3439564
5-116447097-A-G not specified Uncertain significance (Mar 23, 2022)2279638
5-116447128-T-C not specified Uncertain significance (Dec 13, 2021)2266532
5-116447142-A-C not specified Uncertain significance (Mar 07, 2024)3159889
5-116447178-A-G not specified Uncertain significance (Nov 15, 2021)2261740
5-116447195-C-A not specified Uncertain significance (Nov 26, 2024)3439563

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP