HMCN1 Chromosome 1

Hemicentin 1
150 variants 150 Health Risk

Upload your DNA to see your personal genotypes for variants in HMCN1.

What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibulins|I-set domain containing"
Locus Type
gene with protein product
Location
1q25.3-q31.1
Ensembl
ENSG00000143341
Associated Conditions (10)
Age related macular degeneration 1
MACULAR DEGENERATION
AGE-RELATED
1
SUSCEPTIBILITY TO
HMCN1-related disorder
Thyroid cancer
nonmedullary
Colorectal cancer
Familial cancer of breast
Key Variants
All Variants (150)
RSID Category Clinical Significance Conditions
RS745727347 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS747509922 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS747548086 Health Risk Conflicting classifications of pathogenicity
RS747682416 Health Risk Conflicting classifications of pathogenicity
RS748058327 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS748993057 Health Risk Conflicting classifications of pathogenicity
RS751511835 Health Risk Conflicting classifications of pathogenicity
RS752255369 Health Risk Conflicting classifications of pathogenicity
RS752738056 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS752889177 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS753115471 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS753374697 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS754249769 Health Risk Conflicting classifications of pathogenicity
RS755762622 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS755881880 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS756922825 Health Risk Conflicting classifications of pathogenicity
RS757430423 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS757566490 Health Risk Conflicting classifications of pathogenicity
RS757774354 Health Risk Conflicting classifications of pathogenicity
RS758248236 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS759007264 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS760760319 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS763275429 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS763411017 Health Risk Conflicting classifications of pathogenicity
RS764698262 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS764699819 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS764895427 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767012387 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767424930 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767566761 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS769758485 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1, HMCN1-related disorder
RS770936849 Health Risk Conflicting classifications of pathogenicity
RS772105060 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS773577908 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS774478146 Health Risk Conflicting classifications of pathogenicity
RS775412545 Health Risk Conflicting classifications of pathogenicity
RS775972475 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS776336811 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS776416150 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS776501578 Health Risk Conflicting classifications of pathogenicity
RS777060812 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS777752487 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS777872545 Health Risk Conflicting classifications of pathogenicity
RS780518184 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS79568371 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Colorectal cancer, Familial cancer of breast
RS886045677 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS886045682 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS886045687 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS903500513 Health Risk Conflicting classifications of pathogenicity
RS879255520 Health Risk Pathogenic Age related macular degeneration 1, Age related macular degeneration 1
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