MROH7

protein-coding

maestro heat like repeat family member 7, the group of Maestro heat like repeat containing

Gene summary

Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C1orf175
HEATR8

MANE transcript

NM_001039464.4

Inheritance

—

ClinVar variants

U:205B:20

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr1:54,641,754-54,710,266

External References & Databases

Ensembl (ENSG00000184313)

Transcript & Mutation Effects

hg38 • Region Span ~68.5 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 MROH7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 219

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039464.4. 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				5 clinvar		5
missense			205 clinvar	15 clinvar		220
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	205	20	0	225

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039464.4	RefSeq	NP_001034553.3	22	MANE Select
ENST00000421030.7	Ensembl	ENSP00000396622.2	22	MANE Select
NM_001291332.2	RefSeq	NP_001278261.1	19	Standard
ENST00000339553.9	Ensembl	ENSP00000343211.5	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular space
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000421030
Coding exons: 22
Length: 68477
Individuals with no LoFs: 124491
Homozygous LoFs: 1
Heterozygous LoFs: 348
Defined: 124840
p: 0.00140

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0813	764	758	1.01	0.0000430	8580
Missense (PolyPhen)		217	232.86	0.93188		2712
Synonymous	0.378	304	312	0.973	0.0000180	2707
Loss of Function	1.68	44	57.8	0.762	0.00000323	636

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0032	0.0031	notable
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0.0013	0.0012	notable
East Asian	0.0010	0.0010	notable
Finnish	0.0013	0.0013	notable
European (Non-Finnish)	0.00045	0.00044	rare
South Asian	0.0053	0.0047	notable
Other	0.0019	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.76
RVIS percentile EVS: 96.72

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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