FAM184A

protein-coding

family with sequence similarity 184 member A, the group of MicroRNA protein coding host genes

Gene summary

Located in P-body; centriolar satellite; and ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C6orf60

MANE transcript

NM_024581.6

Inheritance

—

ClinVar variants

U:160B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr6:118,959,763-119,149,387

External References & Databases

Ensembl (ENSG00000111879)

Transcript & Mutation Effects

hg38 • Region Span ~189.6 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 FAM184A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 152

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024581.6. 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	1 clinvar		3
missense			151 clinvar	4 clinvar		155
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	160	5	0	165

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024581.6	RefSeq	NP_078857.5	18	MANE Select
ENST00000338891.12	Ensembl	ENSP00000342604.7	18	MANE Select
NM_001100411.3	RefSeq	NP_001093881.1	16	Standard
NM_001288576.2	RefSeq	NP_001275505.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function
protein binding

Cellular Component

extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338891
Coding exons: 18
Length: 189625
Individuals with no LoFs: 124678
Homozygous LoFs: 0
Heterozygous LoFs: 116
Defined: 124794
p: 0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.13	487	562	0.866	0.0000279	7592
Missense (PolyPhen)		121	144.77	0.83582		2017
Synonymous	0.555	186	196	0.950	0.00000926	1955
Loss of Function	2.30	43	62.6	0.686	0.00000334	780

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00046	0.00045	rare
Latino/Admixed American	0.00022	0.00020	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00062	0.00061	rare
Finnish	0.00019	0.00019	rare
European (Non-Finnish)	0.00063	0.00063	rare
South Asian	0.00037	0.00036	rare
Other	0.00068	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0959

Intolerance Scores

LoFtool: 0.967
RVIS EVS: -0.22
RVIS percentile EVS: 37.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.385

Gene Damage Prediction

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