| Variant ID | 18811 |
|---|---|
| Entrez Gene ID | 2200 |
| Gene | FBN1 (GeneCards) |
| Location | hg19 15:48744410-48744410
hg38 15:48452213-48452213 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.48744410 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2994 |
| CADD Raw score (version 1.3) | 0.093627 (Deleterious) |
| FATHMM raw prediction score | 0.29038 (Tolerated) |
| Deleterious probability by DeFine | 0.7224 (Deleterious) |
| Entrez Gene ID | 2200 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBN1 (GeneCards) |
| Number of variants in FBN1 in this database | 7 (view all the variants) |
| Full name | fibrillin 1 |
| Band | 15q21.1 |
| Other IDs | Vega: OTTHUMG00000172218 OMIM: 134797 HGNC: HGNC:3603 Ensembl: ENSG00000166147 |
| Other names | FBN, SGS, WMS, MASS, MFLS, MFS1, OCTD, SSKS, WMS2, ACMICD, ECTOL1, GPHYSD2 |
| Summary | This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016] |
| Individual ID | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |