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
RS1160639880 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS121434382 Health Risk Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED, 1
RS1319739012 Health Risk Conflicting classifications of pathogenicity
RS137903471 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS137942830 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS138178673 Health Risk Conflicting classifications of pathogenicity
RS138232561 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS138290901 Health Risk Conflicting classifications of pathogenicity
RS138409434 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS138900807 Health Risk Conflicting classifications of pathogenicity
RS140251121 Health Risk Conflicting classifications of pathogenicity
RS140296295 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS140744695 Health Risk Conflicting classifications of pathogenicity
RS140778669 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS140971270 Health Risk Conflicting classifications of pathogenicity
RS140981285 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141099682 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141213545 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141324048 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS141371119 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141573564 Health Risk Conflicting classifications of pathogenicity
RS141818688 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS142475959 Health Risk Conflicting classifications of pathogenicity
RS142754121 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS142871818 Health Risk Conflicting classifications of pathogenicity
RS142909496 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS143629026 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS144560225 Health Risk Conflicting classifications of pathogenicity
RS144772706 Health Risk Conflicting classifications of pathogenicity
RS144994573 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS145758069 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS145955451 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS146143836 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS146365142 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
RS146401446 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Thyroid cancer, nonmedullary
RS146430539 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS146671871 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS147189545 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS147789097 Health Risk Conflicting classifications of pathogenicity
RS147891898 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS148097981 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS149329415 Health Risk Conflicting classifications of pathogenicity
RS149752078 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150050864 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150188026 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150757082 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150757617 Health Risk Conflicting classifications of pathogenicity
RS150811327 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS151211018 Health Risk Conflicting classifications of pathogenicity
RS1661842867 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
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