C10orf67

protein-coding

chromosome 10 open reading frame 67

Gene summary

Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

LINC01552
C10orf115

MANE transcript

NM_001371909.1

Inheritance

—

ClinVar variants

U:4

Top phenotype

Type 2 diabetes mellitus

gnomAD constraint

pLI —, LoF o/e 1.16

Max pathogenic AF

—

Genomic locus

chr10:23,202,696-23,344,845

External References & Databases

Ensembl (ENSG00000179133)

Transcript & Mutation Effects

hg38 • Region Span ~142.1 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 C10orf67 variants in ClinVar

5 Conditions Cataloged

Type 2 diabetes mellitusTotal: 2

not providedTotal: 1

Pancreatic agenesis 2Total: 1

Congenital myasthenic syndrome 19Total: 1

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001371909.1. 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			1
missense			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	0	0	4

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001371909.1	RefSeq	NP_001358838.1	16	MANE Select
ENST00000636213.3	Ensembl	ENSP00000490528.2	16	MANE Select
NM_001351306.2	RefSeq	NP_001338235.1	6	Standard
NM_001365862.2	RefSeq	NP_001352791.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000323327
Coding exons: 5
Length: 77651
Individuals with no LoFs: 124567
Homozygous LoFs: 0
Heterozygous LoFs: 39
Defined: 124606
p: 0.000157

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.266	86	93.2	0.922	0.00000422	1206
Missense (PolyPhen)		23	26.784	0.85873		398
Synonymous	0.900	28	34.7	0.806	0.00000159	332
Loss of Function	-0.468	11	9.45	1.16	4.84e-7	113

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0012	0.0012	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000053	0.000053	rare
South Asian	0.000065	0.000065	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.501
RVIS EVS: 0.04
RVIS percentile EVS: 56.64

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