SOX9-AS1

SOX9 antisense RNA 1, the group of Antisense RNAs

Basic information

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.

• Camptomelic dysplasia (208 variants)
• not provided (115 variants)
• Inborn genetic diseases (23 variants)
• not specified (18 variants)
• Connective tissue disorder (13 variants)
• Campomelic dysplasia with autosomal sex reversal (9 variants)
• SOX9-related condition (8 variants)
• Acampomelic campomelic dysplasia (3 variants)
• Sex reversal (1 variants)
• Malignant tumor of prostate (1 variants)
• Colorectal cancer (1 variants)
• Bent bone dysplasia (1 variants)

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	59	50	110	92	23	334
Total	59	50	110	92	23

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP