| Variant ID | 9319 |
|---|---|
| Entrez Gene ID | 79981 |
| Gene | FRMD1 (GeneCards) |
| Location | hg19 6:168612503-168612503
hg38 6:168211823-168211823 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.168612503 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.2777 |
| CADD Raw score (version 1.3) | -0.037152 (Deleterious) |
| FATHMM raw prediction score | 0.07215 (Tolerated) |
| Deleterious probability by DeFine | 0.2541 (Neutral) |
| Entrez Gene ID | 79981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRMD1 (GeneCards) |
| Number of variants in FRMD1 in this database | 5 (view all the variants) |
| Full name | FERM domain containing 1 |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000016037 HGNC: HGNC:21240 Ensembl: ENSG00000153303 |
| Other names | bA164L23.1 |
| Summary | None |
| Individual ID | 29217584.08 (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; |