HMCN1 Chromosome 1
Hemicentin 1
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
RS1160639880
Conflicting classifications of pathogenicity
Age related macular degeneration 1, Age related macular degeneration 1
Health Risk
RS121434382
Conflicting classifications of pathogenicity
MACULAR DEGENERATION, AGE-RELATED, 1
Health Risk
RS1319739012
Conflicting classifications of pathogenicity
Health Risk
RS137903471
Conflicting classifications of pathogenicity
Age related macular degeneration 1, Age related macular degeneration 1
Health Risk
RS137942830
Conflicting classifications of pathogenicity
Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
Health Risk
RS138178673
Conflicting classifications of pathogenicity
Health Risk
RS138232561
Conflicting classifications of pathogenicity
Age related macular degeneration 1, HMCN1-related disorder, Age related macular degeneration 1
Health Risk
RS138290901
Conflicting classifications of pathogenicity
Health Risk
RS138409434
Conflicting classifications of pathogenicity
Age related macular degeneration 1, Age related macular degeneration 1
Health Risk
RS138900807
Conflicting classifications of pathogenicity
Health Risk
RS140251121
Conflicting classifications of pathogenicity
Health Risk
RS140296295
Conflicting classifications of pathogenicity
Age related macular degeneration 1, Age related macular degeneration 1
Health Risk
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 |