ADAMTS9-AS2

ADAMTS9 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 3:64684879-65061892

Links

ENSG00000241684 ∙ NCBI:100507098 ∙ ∙ HGNC:42435 ∙ ∙ ∙ 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-AS2 gene.

• not provided (14 variants)
• Inborn genetic diseases (5 variants)
• Nephronophthisis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS9-AS2 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			7	4	6	17
Total	0	0	7	4	6

Variants in ADAMTS9-AS2

This is a list of pathogenic ClinVar variants found in the ADAMTS9-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-64686566-A-G			Uncertain significance (Oct 28, 2022)
3-64686610-G-A		ADAMTS9-related disorder	Benign (Aug 11, 2023)
3-64686662-G-T		not specified	Uncertain significance (Sep 12, 2023)
3-64686677-T-A			Uncertain significance (Dec 30, 2022)
3-64686682-C-T			Likely benign (Sep 07, 2022)
3-64686691-C-A			Likely benign (Oct 03, 2022)
3-64686732-C-T			Uncertain significance (Mar 03, 2022)
3-64686733-G-A			Likely benign (Jul 06, 2018)
3-64686768-C-T		not specified	Uncertain significance (Mar 15, 2024)
3-64686798-A-T		ADAMTS9-related disorder	Benign (Jan 25, 2024)
3-64686825-C-A		ADAMTS9-related disorder	Benign (Nov 14, 2023)
3-64686831-C-T		not specified	Uncertain significance (Jan 04, 2024)
3-64686858-T-C		ADAMTS9-related disorder	Benign (Jul 07, 2023)
3-64686885-C-A		not specified	Uncertain significance (Nov 03, 2022)
3-64686890-G-C		Nephronophthisis	Conflicting classifications of pathogenicity (Dec 01, 2022)
3-64686902-T-A		not specified	Uncertain significance (Aug 22, 2023)
3-64686955-C-A		not specified	Uncertain significance (Jul 09, 2021)
3-64687048-G-C			Benign (May 10, 2021)
3-64687573-C-T		not specified	Uncertain significance (Jun 29, 2022)
3-64687610-G-T			Uncertain significance (Dec 11, 2023)
3-64687612-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-64687619-C-A			Benign (Oct 13, 2023)
3-64719689-C-T			not provided (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP