FRMD1

protein-coding

FERM domain containing 1, the group of FERM domain containing

Gene summary

Predicted to enable protein sequestering activity. Predicted to be involved in positive regulation of hippo signaling. Predicted to be active in cell-cell junction and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024919.6

Inheritance

—

ClinVar variants

U:123B:18

Top phenotype

Distal myopathy with posterior leg and anterior hand involvement

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr6:168,053,095-168,101,511

External References & Databases

Ensembl (ENSG00000153303)

Transcript & Mutation Effects

hg38 • Region Span ~48.4 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 FRMD1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 130

not providedTotal: 7

Distal myopathy with posterior leg and anterior hand involvementTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024919.6. 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			1 clinvar	5 clinvar		6
missense			121 clinvar	10 clinvar	3 clinvar	134
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	123	15	3	141

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024919.6	RefSeq	NP_079195.3	11	MANE Select
ENST00000283309.11	Ensembl	ENSP00000283309.6	11	MANE Select
NM_001122841.3	RefSeq	NP_001116313.1	11	Standard
NM_001394681.1	RefSeq	NP_001381610.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Hippo signaling pathway - Homo sapiens (human)
Hippo signaling pathway - multiple species - Homo sapiens (human)

Cellular Component

cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000283309
Coding exons: 11
Length: 25813
Individuals with no LoFs: 125594
Homozygous LoFs: 0
Heterozygous LoFs: 150
Defined: 125744
p: 0.000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0887	348	343	1.01	0.0000225	3524
Missense (PolyPhen)		107	97.938	1.0925		1081
Synonymous	-1.07	165	148	1.11	0.0000104	1074
Loss of Function	0.422	22	24.2	0.907	0.00000120	274

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.00053	0.00052	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00028	0.00027	rare
Finnish	0.0020	0.0020	notable
European (Non-Finnish)	0.00053	0.00053	rare
South Asian	0.00036	0.00036	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.312
RVIS EVS: 1.12
RVIS percentile EVS: 92.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.308

Gene Damage Prediction

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