CCDC183

protein-coding

coiled-coil domain containing 183

Gene summary

Predicted to act upstream of or within several processes, including centriole assembly; cytoplasm organization; and spermatid development. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA1984

MANE transcript

NM_001039374.5

Inheritance

—

ClinVar variants

P:2U:101B:10

Top phenotype

Essential tremor

gnomAD constraint

pLI —, LoF o/e 0.66

Max pathogenic AF

—

Genomic locus

chr9:136,796,338-136,807,741

External References & Databases

Ensembl (ENSG00000213213)

Transcript & Mutation Effects

hg38 • Region Span ~11.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC183 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 4

Essential tremorTotal: 1

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039374.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			101 clinvar	7 clinvar		108
nonsense		2 clinvar				2
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	2	101	10	0	113

Highest pathogenic variant AF is 0.00006837033

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039374.5	RefSeq	NP_001034463.4	14	MANE Select
ENST00000338005.7	Ensembl	ENSP00000338013.6	14	MANE Select
ENST00000479371.5	Ensembl	ENSP00000419222.1	10	Standard
ENST00001093536.1	Ensembl	ENSP00000763342.1	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338005
Coding exons: 14
Length: 11392
Individuals with no LoFs: 124220
Homozygous LoFs: 5
Heterozygous LoFs: 570
Defined: 124795
p: 0.00231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.139	321	314	1.02	0.0000180	3500
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00052	rare
Latino/Admixed American	0.0019	0.0017	notable
Ashkenazi Jewish	0.015	0.014	notable
East Asian	0.00028	0.00028	rare
Finnish	0.0017	0.0014	notable
European (Non-Finnish)	0.0029	0.0023	notable
South Asian	0.0022	0.0019	notable
Other	0.0040	0.0035	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 2.65
RVIS percentile EVS: 98.83

Essentials

Essential (gene trap): N

Gene Damage Prediction

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