SOX9-AS1

SOX9 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:72067099-72237203

Links

ENSG00000234899NCBI:400618HGNC:49321GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SOX9-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOX9-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
2
clinvar
3
clinvar
5
Total 0 0 0 2 3

Variants in SOX9-AS1

This is a list of pathogenic ClinVar variants found in the SOX9-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
17-72120678-T-TGCGC Likely benign (Aug 20, 2020)1196892
17-72120683-GCA-G Benign (Aug 23, 2019)1284079
17-72120683-G-GCA Benign (Aug 08, 2019)1229218
17-72120683-G-GCGCA Benign (Aug 06, 2019)1264490
17-72120683-G-GCGCACA Likely benign (Jul 19, 2020)1199135
17-72121223-G-A Benign/Likely benign (Oct 08, 2021)324902
17-72121236-T-A Likely benign (Jul 30, 2019)324903
17-72121309-G-A Benign (Mar 03, 2015)1290975
17-72121400-C-G Camptomelic dysplasia Likely benign (Sep 04, 2024)3632893
17-72121404-G-A Inborn genetic diseases Uncertain significance (May 30, 2024)3321668
17-72121406-C-G Camptomelic dysplasia Uncertain significance (Jun 25, 2022)2010712
17-72121406-C-T Camptomelic dysplasia Conflicting classifications of pathogenicity (Mar 30, 2023)502493
17-72121407-C-T Camptomelic dysplasia • Inborn genetic diseases Conflicting classifications of pathogenicity (Jan 06, 2025)2183871
17-72121409-C-T not specified • Camptomelic dysplasia Likely benign (Nov 11, 2024)507525
17-72121415-G-A Camptomelic dysplasia • Inborn genetic diseases Uncertain significance (Jan 12, 2025)3695357
17-72121422-A-C Inborn genetic diseases Uncertain significance (Oct 20, 2024)3447541
17-72121431-CAGG-C Uncertain significance (Nov 26, 2024)3900111
17-72121433-G-A Camptomelic dysplasia Benign (Jan 15, 2025)536131
17-72121439-G-A Camptomelic dysplasia • SOX9-related disorder Likely benign (Nov 05, 2024)705752
17-72121444-T-C Camptomelic dysplasia Uncertain significance (May 09, 2023)2862825
17-72121446-T-A Camptomelic dysplasia Likely benign (Jul 09, 2021)1597579
17-72121447-C-T Camptomelic dysplasia Uncertain significance (Apr 29, 2024)1995097
17-72121450-G-C Camptomelic dysplasia Uncertain significance (May 19, 2022)1034865
17-72121452-G-A Prostate cancer Uncertain significance (-)161465
17-72121452-GC-G SOX9-related disorder Likely pathogenic (Jan 05, 2024)3032236

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP