| Variant ID | 12928 |
|---|---|
| Entrez Gene ID | 257019 |
| Gene | FRMD3 (GeneCards) |
| Location | hg19 9:85909545-85909545
hg38 9:83294630-83294630 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.85909545 T>C (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0224 |
| CADD Raw score (version 1.3) | -0.068049 (Deleterious) |
| FATHMM raw prediction score | 0.11185 (Tolerated) |
| Deleterious probability by DeFine | 0.296 (Neutral) |
| Entrez Gene ID | 257019 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRMD3 (GeneCards) |
| Number of variants in FRMD3 in this database | 6 (view all the variants) |
| Full name | FERM domain containing 3 |
| Band | 9q21.32 |
| Other IDs | Vega: OTTHUMG00000020103 OMIM: 607619 HGNC: HGNC:24125 Ensembl: ENSG00000172159 |
| Other names | 4.1O, P410, EPB41LO, EPB41L4O |
| Summary | The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
| 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; |