GeneBe

THBS4-AS1

THBS4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:80052374-80083665

Links

ENSG00000249825 ∙ NCBI:101929215 ∙ ∙ HGNC:40583 ∙ ∙ ∙ 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 THBS4-AS1 gene.

  • Inborn genetic diseases (36 variants)
  • not provided (5 variants)
  • Hirschsprung disease, susceptibility to, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THBS4-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
37
clinvar
2
clinvar
3
clinvar
 42
Total 0 0 37 2 3

Variants in THBS4-AS1

This is a list of pathogenic ClinVar variants found in the THBS4-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
5-80055787-A-G not specified Uncertain significance (Feb 01, 2023)2461333
5-80055793-C-T not specified Uncertain significance (Mar 30, 2024)2272841
5-80055865-C-T not specified Uncertain significance (Mar 30, 2024)3325884
5-80055880-A-G not specified Uncertain significance (Dec 06, 2022)2333208
5-80055915-A-G Benign (Mar 29, 2018)783438
5-80055967-G-A not specified Uncertain significance (Jul 25, 2023)2614097
5-80056031-A-G not specified Uncertain significance (Apr 11, 2023)2536122
5-80058209-T-C not specified Uncertain significance (Dec 08, 2023)3177010
5-80058287-A-T not specified Uncertain significance (Sep 14, 2022)2355276
5-80058299-G-A not specified Uncertain significance (Nov 01, 2022)3177011
5-80058737-A-G not specified Uncertain significance (Nov 10, 2022)2355085
5-80058776-C-T not specified Uncertain significance (Mar 02, 2023)2493556
5-80059700-T-G Benign (Dec 01, 2023)3024840
5-80059724-C-T not specified Uncertain significance (Apr 07, 2023)2535144
5-80059771-C-T not specified Uncertain significance (Dec 22, 2023)3177013
5-80059783-C-T not specified Uncertain significance (Dec 27, 2023)3177014
5-80059799-C-T not specified Uncertain significance (Nov 10, 2021)2223628
5-80059813-G-T not specified Uncertain significance (Mar 11, 2022)2278378
5-80059825-G-A not specified Uncertain significance (Oct 28, 2023)3177015
5-80061733-A-G not specified Uncertain significance (Dec 22, 2023)3176997
5-80061746-G-C not specified Uncertain significance (Jun 16, 2022)2284024
5-80061827-A-G not specified Uncertain significance (Jul 14, 2021)2206143
5-80065443-C-T not specified Uncertain significance (Jun 07, 2024)2272922
5-80065458-C-T not specified Uncertain significance (Dec 21, 2023)3176998
5-80065475-T-G not specified Uncertain significance (May 24, 2023)2551770

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP