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
RS181852740 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS182468717 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS183725854 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1, HMCN1-related disorder
RS184128357 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS187354891 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1, Age related macular degeneration 1
RS191557299 Health Risk Conflicting classifications of pathogenicity
RS199547255 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199585281 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199613884 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199966462 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS199971679 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199984579 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS200327975 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS200402956 Health Risk Conflicting classifications of pathogenicity
RS200662005 Health Risk Conflicting classifications of pathogenicity
RS200871004 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS200897962 Health Risk Conflicting classifications of pathogenicity
RS201008146 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201246528 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201345841 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201379680 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS201563661 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201865736 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS202140956 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS2102095661 Health Risk Conflicting classifications of pathogenicity
RS367681878 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS367790421 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS368008071 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS368334157 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS369293880 Health Risk Conflicting classifications of pathogenicity
RS370901552 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS373461955 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS373816059 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS374597394 Health Risk Conflicting classifications of pathogenicity
RS374670687 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS375021941 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS376810057 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS41317461 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS41317503 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS538516291 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS538970775 Health Risk Conflicting classifications of pathogenicity
RS540128845 Health Risk Conflicting classifications of pathogenicity
RS554554647 Health Risk Conflicting classifications of pathogenicity
RS566865273 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS568780532 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS573119781 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS573598298 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS575710648 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS61732179 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1, HMCN1-related disorder
RS745639179 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
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