ABHD18

protein-coding

abhydrolase domain containing 18, the group of Abhydrolase domain containing

Gene summary

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C4orf29

MANE transcript

NM_001358451.3

Inheritance

—

ClinVar variants

U:60B:2

Top phenotype

Neuronal ceroid lipofuscinosis 7

gnomAD constraint

pLI —, LoF o/e 0.88

Max pathogenic AF

—

Genomic locus

chr4:127,965,315-128,039,953

External References & Databases

Ensembl (ENSG00000164074)

Transcript & Mutation Effects

hg38 • Region Span ~74.6 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 ABHD18 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 55

not providedTotal: 2

Neuronal ceroid lipofuscinosis 7Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001358451.3. 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			4 clinvar	2 clinvar		6
missense			55 clinvar			55
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	2	0	62

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 81 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001358451.3	RefSeq	NP_001345380.1	12	MANE Select
ENST00000645843.2	Ensembl	ENSP00000496010.1	12	MANE Select
NM_001039717.2	RefSeq	NP_001034806.1	10	Standard
NM_001319305.3	RefSeq	NP_001306234.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000398965
Coding exons: 10
Length: 74406
Individuals with no LoFs: 124525
Homozygous LoFs: 0
Heterozygous LoFs: 110
Defined: 124635
p: 0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.986	163	202	0.805	0.0000100	2688
Missense (PolyPhen)		62	83.667	0.74104		1097
Synonymous	1.21	53	65.4	0.810	0.00000296	771
Loss of Function	0.525	20	22.7	0.881	0.00000144	276

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00027	0.00026	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.0054	0.0054	notable
East Asian	0.00029	0.00028	rare
Finnish	0.000094	0.000093	rare
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00047	0.00042	rare
Other	0.00086	0.00083	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.55
RVIS percentile EVS: 81.38