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HMCN1

Synonyms
ARMD1, FBLN6, FIBL-6, FIBL6
External resources
Summary
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
532
Likely pathogenic
2
VUS
10,473
Likely benign
13,495
Benign
9,643

Patient phenotypes

Proportions of phenotypes among 533 patients carring pathogenic or likely pathogenic variants on HMCN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of the musculoskeletal system
27%
Abnormality of the eye
23.8%
Abnormality of the cardiovascular system
20.5%
Abnormality of head or neck
18.9%
Abnormality of the ear
14.3%
Abnormality of limbs
11.8%
Abnormality of the genitourinary system
11.6%
Growth abnormality
11.6%
Abnormality of the integument
9.8%
Abnormality of the digestive system
8.4%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the endocrine system
4.3%
Constitutional symptom
3.4%
Neoplasm
3%
Abnormality of the respiratory system
2.8%
Abnormality of prenatal development or birth
2.4%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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