CCDC183-AS1

CCDC183 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:136803927-136808848

Previous symbols: [ "KIAA1984-AS1" ]

Links

ENSG00000228544 ∙ NCBI:100131193 ∙ ∙ HGNC:44105 ∙ ∙ ∙ 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 CCDC183-AS1 gene.

• Inborn genetic diseases (26 variants)
• Essential tremor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC183-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	25	1		27
Total	0	1	25	1	0

Highest pathogenic variant AF is 0.000158

Variants in CCDC183-AS1

This is a list of pathogenic ClinVar variants found in the CCDC183-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
9-136804504-G-C		not specified	Uncertain significance (Mar 31, 2023)
9-136804520-G-A		not specified	Uncertain significance (Dec 02, 2022)
9-136804535-G-A		not specified	Uncertain significance (Oct 19, 2024)
9-136804545-G-A		not specified	Uncertain significance (Mar 31, 2023)
9-136804577-A-C		not specified	Uncertain significance (Feb 27, 2023)
9-136804586-G-A		not specified	Uncertain significance (Sep 20, 2024)
9-136804593-T-C		not specified	Uncertain significance (Oct 06, 2021)
9-136804599-C-G		not specified	Uncertain significance (Oct 10, 2023)
9-136804599-C-T		not specified	Uncertain significance (Apr 10, 2023)
9-136804613-G-A		not specified	Uncertain significance (Dec 06, 2024)
9-136804626-G-A		not specified	Uncertain significance (Sep 08, 2024)
9-136804773-C-G		not specified	Uncertain significance (Dec 17, 2021)
9-136804787-C-T		not specified	Uncertain significance (Apr 06, 2022)
9-136804791-C-G		not specified	Uncertain significance (Mar 15, 2024)
9-136805395-C-T		See cases	Likely pathogenic (-)
9-136805399-C-T		not specified	Uncertain significance (Jan 07, 2025)
9-136805404-G-A		not specified	Uncertain significance (Jul 25, 2023)
9-136805419-G-A		not specified	Uncertain significance (Mar 28, 2024)
9-136805419-G-C		not specified	Uncertain significance (Sep 17, 2021)
9-136805426-T-C		not specified	Uncertain significance (Jan 22, 2024)
9-136805432-G-A		not specified	Uncertain significance (Aug 26, 2022)
9-136805441-G-A		not specified	Likely benign (Dec 08, 2023)
9-136806112-C-T		not specified	Uncertain significance (Nov 08, 2021)
9-136806124-T-C		not specified	Uncertain significance (Jan 04, 2024)
9-136806154-G-A		Essential tremor	Likely pathogenic (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP