| Variant ID | 18772 |
|---|---|
| Entrez Gene ID | 342184 |
| Gene | FMN1 (GeneCards) |
| Location | hg19 15:33436013-33436013
hg38 15:33143812-33143812 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.33436013 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1292 |
| CADD Raw score (version 1.3) | 0.009721 (Deleterious) |
| FATHMM raw prediction score | 0.13886 (Tolerated) |
| Deleterious probability by DeFine | 0.5633 (Deleterious) |
| Entrez Gene ID | 342184 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FMN1 (GeneCards) |
| Number of variants in FMN1 in this database | 8 (view all the variants) |
| Full name | formin 1 |
| Band | 15q13.3 |
| Other IDs | Vega: OTTHUMG00000172201 OMIM: 136535 HGNC: HGNC:3768 Ensembl: ENSG00000248905 |
| Other names | LD, FMN |
| Summary | This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015] |
| Individual ID | 29217584.03 (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; |