| Variant ID | 24863 |
|---|---|
| Entrez Gene ID | 2335 |
| Gene | FN1 (GeneCards) |
| Location | hg19 2:216276514-216276514
hg38 2:215411791-215411791 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.216276514 C>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.521 |
| CADD Raw score (version 1.3) | -0.191715 (Deleterious) |
| FATHMM raw prediction score | 0.042 (Tolerated) |
| Deleterious probability by DeFine | 0.1675 (Neutral) |
| Entrez Gene ID | 2335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FN1 (GeneCards) |
| Number of variants in FN1 in this database | 2 (view all the variants) |
| Full name | fibronectin 1 |
| Band | 2q35 |
| Other IDs | Vega: OTTHUMG00000133054 OMIM: 135600 HGNC: HGNC:3778 Ensembl: ENSG00000115414 |
| Other names | FN, CIG, FNZ, MSF, ED-B, FINC, GFND, LETS, GFND2, SMDCF |
| Summary | This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |