TEDC1

protein-coding

tubulin epsilon and delta complex 1

Gene summary

Involved in microtubule cytoskeleton organization. Located in centrosome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf80

MANE transcript

NM_001367178.1

Inheritance

ClinVar variants

U:11B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr14:105,489,855-105,499,575

External References & Databases

Ensembl (ENSG00000185347)

Transcript & Mutation Effects

hg38 • Region Span ~9.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

autosomal recessive primary microcephalyLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0016660

Submitter: Ambry Genetics

microcephalyLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0001149

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TEDC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 7

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367178.1. 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				3 clinvar		3
missense			9 clinvar	2 clinvar		11
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	11	5	0	16

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367178.1	RefSeq	NP_001354107.1	9	MANE Select
ENST00000392523.9	Ensembl	ENSP00000376308.4	9	MANE Select
NM_001134875.2	RefSeq	NP_001128347.1	8	Standard
NM_001134876.2	RefSeq	NP_001128348.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000392522
Coding exons: 8
Length: 9721
Individuals with no LoFs: 125265
Homozygous LoFs: 0
Heterozygous LoFs: 29
Defined: 125294
p: 0.000116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.331	267	252	1.06	0.0000169	2588
Missense (PolyPhen)		78	79.853	0.97679		934
Synonymous	-0.574	118	110	1.07	0.00000653	981
Loss of Function	2.44	6	16.8	0.357	9.07e-7	172

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00049	0.00049	rare
Finnish	0.000057	0.000046	rare
European (Non-Finnish)	0.00012	0.00011	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metabolite Chivosazole F. {ECO:0000269|PubMed:28796488}.;

Intolerance Scores

RVIS EVS: 0.93
RVIS percentile EVS: 89.83

Essentials

Essential (gene trap): N