LRRC18

protein-coding

leucine rich repeat containing 18

Gene summary

Predicted to be involved in intracellular signal transduction. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001378102.1

Inheritance

—

ClinVar variants

U:47B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.28

Max pathogenic AF

—

Genomic locus

chr10:48,909,480-48,939,840

External References & Databases

Ensembl (ENSG00000165383)

Transcript & Mutation Effects

hg38 • Region Span ~30.4 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 LRRC18 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 52

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001378102.1. 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			47 clinvar	4 clinvar		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	5	0	52

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001378102.1	RefSeq	NP_001365031.1	2	MANE Select
ENST00000374160.8	Ensembl	ENSP00000363275.3	2	MANE Select
NM_001006939.4	RefSeq	NP_001006940.3	2	Standard
ENST00001004737.1	Ensembl	ENSP00000674554.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

inorganic anion transport
anion transmembrane transport

Molecular Function

volume-sensitive anion channel activity

Cellular Component

cytoplasm
ion channel complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000374160
Coding exons: 2
Length: 25715
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125748
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.728	182	156	1.16	0.00000928	1727
Missense (PolyPhen)		40	35.774	1.1181		429
Synonymous	-1.29	76	63.0	1.21	0.00000368	519
Loss of Function	-0.568	6	4.68	1.28	1.94e-7	75

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.00016	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the regulation of spermatogenesis and sperm maturation. {ECO:0000250}.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.642
RVIS EVS: 0.24
RVIS percentile EVS: 69.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.501

Gene Damage Prediction

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