SOX9-AS1

SOX9 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:72067099-72237203

Links

ENSG00000234899 ∙ NCBI:400618 ∙ ∙ HGNC:49321 ∙ ∙ ∙ 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 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	3	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)
17-72120683-GCA-G			Benign (Aug 23, 2019)
17-72120683-G-GCA			Benign (Aug 08, 2019)
17-72120683-G-GCGCA			Benign (Aug 06, 2019)
17-72120683-G-GCGCACA			Likely benign (Jul 19, 2020)
17-72121223-G-A			Benign/Likely benign (Oct 08, 2021)
17-72121236-T-A			Likely benign (Jul 30, 2019)
17-72121309-G-A			Benign (Mar 03, 2015)
17-72121400-C-G		Camptomelic dysplasia	Likely benign (Sep 04, 2024)
17-72121404-G-A		Inborn genetic diseases	Uncertain significance (May 30, 2024)
17-72121406-C-G		Camptomelic dysplasia	Uncertain significance (Jun 25, 2022)
17-72121406-C-T		Camptomelic dysplasia	Conflicting classifications of pathogenicity (Mar 30, 2023)
17-72121407-C-T		Camptomelic dysplasia • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 06, 2025)
17-72121409-C-T		not specified • Camptomelic dysplasia	Likely benign (Nov 11, 2024)
17-72121415-G-A		Camptomelic dysplasia • Inborn genetic diseases	Uncertain significance (Jan 12, 2025)
17-72121422-A-C		Inborn genetic diseases	Uncertain significance (Oct 20, 2024)
17-72121433-G-A		Camptomelic dysplasia	Benign (Jan 15, 2025)
17-72121439-G-A		Camptomelic dysplasia • SOX9-related disorder	Likely benign (Nov 05, 2024)
17-72121444-T-C		Camptomelic dysplasia	Uncertain significance (May 09, 2023)
17-72121446-T-A		Camptomelic dysplasia	Likely benign (Jul 09, 2021)
17-72121447-C-T		Camptomelic dysplasia	Uncertain significance (Apr 29, 2024)
17-72121450-G-C		Camptomelic dysplasia	Uncertain significance (May 19, 2022)
17-72121452-G-A		Malignant tumor of prostate	Uncertain significance (-)
17-72121452-GC-G		SOX9-related disorder	Likely pathogenic (Jan 05, 2024)
17-72121458-AG-A		Connective tissue disorder	Likely pathogenic (Apr 01, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP