ADAMTS9-AS1

ADAMTS9 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:64561322-64592757

Links

ENSG00000241158 ∙ NCBI:101929335 ∙ ∙ HGNC:40625 ∙ ∙ ∙ 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 ADAMTS9-AS1 gene.

• not provided (10 variants)
• Inborn genetic diseases (4 variants)
• Nephronophthisis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS9-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	4	3	6	14
Total	0	1	4	3	6

Variants in ADAMTS9-AS1

This is a list of pathogenic ClinVar variants found in the ADAMTS9-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
3-64561502-T-C			Benign (May 10, 2021)
3-64561612-G-A		not specified	Uncertain significance (Nov 09, 2024)
3-64561642-G-A		not specified	Uncertain significance (Jun 26, 2024)
3-64561697-C-T		not specified	Uncertain significance (Jul 27, 2021)
3-64561699-ATC-A		Nephronophthisis	Likely pathogenic (Jan 03, 2019)
3-64561714-T-A		not specified	Conflicting classifications of pathogenicity (Dec 02, 2024)
3-64561716-C-T			Likely benign (Nov 01, 2022)
3-64561727-C-T		not specified	Uncertain significance (Feb 19, 2025)
3-64561801-G-C			Benign (May 08, 2021)
3-64561826-C-T			Benign (May 10, 2021)
3-64568287-T-C			Benign (May 08, 2021)
3-64568352-G-A			Likely benign (Oct 15, 2024)
3-64568357-G-A			Likely benign (May 09, 2024)
3-64568379-C-A		not specified	Uncertain significance (Jul 26, 2023)
3-64568379-C-T		not specified	Uncertain significance (May 04, 2025)
3-64568396-G-A		not specified	Uncertain significance (Aug 04, 2023)
3-64568411-C-T		not specified	Uncertain significance (Apr 13, 2025)
3-64568424-G-A		not specified	Uncertain significance (Jul 14, 2024)
3-64568425-C-T			Likely benign (Mar 04, 2022)
3-64568578-T-C			Benign (May 08, 2021)
3-64568583-G-A			Benign (May 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP