| Variant ID | 17879 |
|---|---|
| Entrez Gene ID | 10129 |
| Gene | FRY (GeneCards) |
| Location | hg19 13:32841622-32841622
hg38 13:32267485-32267485 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.32841622 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1174 |
| CADD Raw score (version 1.3) | 0.005041 (Deleterious) |
| FATHMM raw prediction score | 0.12668 (Tolerated) |
| Deleterious probability by DeFine | 0.521 (Deleterious) |
| Entrez Gene ID | 10129 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRY (GeneCards) |
| Number of variants in FRY in this database | 4 (view all the variants) |
| Full name | FRY microtubule binding protein |
| Band | 13q13.1 |
| Other IDs | Vega: OTTHUMG00000016696 OMIM: 614818 HGNC: HGNC:20367 Ensembl: ENSG00000073910 |
| Other names | CG003, 13CDNA73, 214K23.2, C13orf14, bA207N4.2, bA37E23.1 |
| Summary | None |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |