CATIP-AS2

CATIP antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 2:218326247-218358002

Links

ENSG00000237281 ∙ ∙ ∙ HGNC:41079 ∙ ∙ ∙ 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 CATIP-AS2 gene.

• Paroxysmal nonkinesigenic dyskinesia (275 variants)
• Paroxysmal nonkinesigenic dyskinesia 1 (80 variants)
• not provided (66 variants)
• Inborn genetic diseases (18 variants)
• not specified (11 variants)
• PNKD-related condition (2 variants)
• Spermatogenic failure 54 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CATIP-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	1	1	200	115	48	365
Total	1	1	200	115	48

Highest pathogenic variant AF is 0.0000527

Variants in CATIP-AS2

This is a list of pathogenic ClinVar variants found in the CATIP-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
2-218331076-G-A		Paroxysmal nonkinesigenic dyskinesia	Benign (Feb 01, 2024)
2-218331076-G-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Feb 18, 2022)
2-218339564-C-T			Likely benign (Jul 17, 2018)
2-218339752-G-T		not specified	Benign (Jun 01, 2019)
2-218339769-C-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Oct 29, 2022)
2-218339772-T-C		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Oct 03, 2022)
2-218339773-C-A		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (Apr 01, 2022)
2-218339773-C-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Oct 13, 2022)
2-218339774-G-A		Paroxysmal nonkinesigenic dyskinesia • Paroxysmal nonkinesigenic dyskinesia 1 • PNKD-related disorder	Benign/Likely benign (Jan 19, 2024)
2-218339779-C-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Aug 18, 2023)
2-218339789-C-G		Paroxysmal nonkinesigenic dyskinesia • Inborn genetic diseases	Uncertain significance (Jan 17, 2024)
2-218339792-G-A		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Oct 13, 2023)
2-218339797-C-T		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (Mar 18, 2022)
2-218339796-A-ACC			Uncertain significance (Feb 01, 2024)
2-218339799-C-T		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (Jul 19, 2022)
2-218339800-G-A		Paroxysmal nonkinesigenic dyskinesia 1 • Paroxysmal nonkinesigenic dyskinesia • PNKD-related disorder	Benign/Likely benign (Jan 29, 2024)
2-218339803-C-T		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (May 22, 2023)
2-218339810-C-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Apr 24, 2023)
2-218339811-G-A		Paroxysmal nonkinesigenic dyskinesia 1 • Paroxysmal nonkinesigenic dyskinesia • PNKD-related disorder	Benign/Likely benign (Jul 01, 2024)
2-218339812-G-C		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (Jul 07, 2023)
2-218339813-G-GT		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (May 19, 2021)
2-218339815-A-G		Inborn genetic diseases	Uncertain significance (Oct 11, 2024)
2-218339819-C-T		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Aug 22, 2022)
2-218339826-C-A		Paroxysmal nonkinesigenic dyskinesia	Likely benign (Aug 23, 2022)
2-218339826-C-T		Paroxysmal nonkinesigenic dyskinesia	Uncertain significance (Nov 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP