CCDC183

coiled-coil domain containing 183

Basic information

Region (hg38): 9:136796338-136807741

Previous symbols: [ "KIAA1984" ]

Links

ENSG00000213213 ∙ NCBI:84960 ∙ OMIM:615955 ∙ HGNC:28236 ∙ Uniprot:Q5T5S1 ∙ AlphaFold ∙ 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 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC183 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			61	3		64
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	61	3	0

Variants in CCDC183

This is a list of pathogenic ClinVar variants found in the CCDC183 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-136799111-G-C		not specified	Uncertain significance (Feb 15, 2023)
9-136799145-G-A		not specified	Uncertain significance (Feb 22, 2025)
9-136799162-C-T		not specified	Uncertain significance (Feb 22, 2025)
9-136799183-A-C		not specified	Uncertain significance (Sep 26, 2024)
9-136799201-A-G		not specified	Uncertain significance (Oct 06, 2022)
9-136800009-G-A		not specified	Likely benign (Nov 27, 2023)
9-136800110-G-A		not specified	Uncertain significance (Nov 13, 2024)
9-136800114-T-C		not specified	Uncertain significance (Dec 02, 2024)
9-136800125-C-G		not specified	Uncertain significance (Dec 15, 2023)
9-136800128-A-G		not specified	Uncertain significance (Jul 30, 2024)
9-136800138-A-G		not specified	Uncertain significance (Jun 24, 2022)
9-136800152-G-C		not specified	Uncertain significance (Dec 18, 2024)
9-136800153-A-C		not specified	Uncertain significance (Jan 21, 2025)
9-136800158-C-T		not specified	Uncertain significance (Aug 12, 2024)
9-136800162-T-C		not specified	Uncertain significance (May 14, 2024)
9-136800452-A-G		not specified	Uncertain significance (Oct 04, 2023)
9-136800469-G-T		not specified	Uncertain significance (Dec 07, 2021)
9-136802689-T-C		not specified	Uncertain significance (Mar 01, 2025)
9-136802707-T-C		not specified	Uncertain significance (Sep 17, 2021)
9-136802724-T-C		not specified	Uncertain significance (Sep 20, 2024)
9-136802734-C-T		not specified	Uncertain significance (Feb 24, 2025)
9-136802757-G-A		not specified	Uncertain significance (Nov 29, 2021)
9-136802772-A-G		not specified	Uncertain significance (Jan 31, 2024)
9-136804504-G-C		not specified	Uncertain significance (Mar 31, 2023)
9-136804520-G-A		not specified	Uncertain significance (Dec 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC183	protein_coding	protein_coding	ENST00000338005	14	11392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.49e-9	0.821	124220	5	570	124795	0.00231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.139	321	314	1.02	0.0000180	3500
Missense in Polyphen		99	92.954	1.065		1120
Synonymous	-0.558	139	131	1.06	0.00000784	963
Loss of Function	1.62	18	27.1	0.664	0.00000115	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00252	0.00242
Ashkenazi Jewish	0.0154	0.0136
East Asian	0.000279	0.000278
Finnish	0.00170	0.00139
European (Non-Finnish)	0.00288	0.00228
Middle Eastern	0.000279	0.000278
South Asian	0.00222	0.00193
Other	0.00399	0.00347

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.65
• rvis_percentile_EVS: 98.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.132
• ghis: 0.416

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ccdc183