| Variant ID | 965 |
|---|---|
| Entrez Gene ID | 83872 |
| Gene | HMCN1 (GeneCards) |
| Location | hg19 1:186121946-186121946
hg38 1:186152814-186152814 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.186121946 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 4987 |
| Amino acid changes in protein | D > D |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3086 |
| CADD Raw score (version 1.3) | 0.700341 (Deleterious) |
| FATHMM raw prediction score | 0.97756 (Tolerated) |
| Deleterious probability by DeFine | 0.5476 (Deleterious) |
| Entrez Gene ID | 83872 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HMCN1 (GeneCards) |
| Number of variants in HMCN1 in this database | 5 (view all the variants) |
| Full name | hemicentin 1 |
| Band | 1q25.3-q31.1 |
| Other IDs | Vega: OTTHUMG00000059337 OMIM: 608548 HGNC: HGNC:19194 Ensembl: ENSG00000143341 |
| Other names | ARMD1, FBLN6, FIBL6, FIBL-6 |
| 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. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |