CEP170B

protein-coding

centrosomal protein 170B

Gene summary

Predicted to be located in microtubule. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0284

MANE transcript

NM_001112726.3

Inheritance

—

ClinVar variants

U:357B:67

Top phenotype

CEP170B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr14:104,865,268-104,896,747

External References & Databases

Ensembl (ENSG00000099814)

Transcript & Mutation Effects

hg38 • Region Span ~31.5 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 CEP170B variants in ClinVar

5 Conditions Cataloged

not specifiedTotal: 364

CEP170B-related disorderTotal: 54

not providedTotal: 10

Abnormal heart morphologyTotal: 2

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001112726.3. 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			1 clinvar	28 clinvar	7 clinvar	36
missense			352 clinvar	24 clinvar	8 clinvar	384
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	357	52	15	424

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001112726.3	RefSeq	NP_001106197.1	18	MANE Select
ENST00000414716.8	Ensembl	ENSP00000404151.2	18	MANE Select
NM_015005.3	RefSeq	NP_055820.2	16	Standard
ENST00000556508.5	Ensembl	ENSP00000451249.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000414716
Coding exons: 18
Length: 31491
Individuals with no LoFs: 124300
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 124311
p: 0.0000442

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.878	933	1.01e+3	0.922	0.0000721	9851
Missense (PolyPhen)		241	308.81	0.78041		3032
Synonymous	-0.508	458	444	1.03	0.0000333	3325
Loss of Function	5.66	8	52.1	0.154	0.00000286	565

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000056	0.000056	rare
Finnish	0.00010	0.000093	rare
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in microtubule organization. {ECO:0000250|UniProtKB:Q5SW79}.;

Intolerance Scores

RVIS EVS: -1.69
RVIS percentile EVS: 2.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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