| Variant ID | 5757 |
|---|---|
| Entrez Gene ID | 23150 |
| Gene | FRMD4B (GeneCards) |
| Location | hg19 3:69253223-69253223
hg38 3:69204072-69204072 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.69253223 T>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.232 |
| CADD Raw score (version 1.3) | 0.168589 (Deleterious) |
| FATHMM raw prediction score | 0.15875 (Tolerated) |
| Deleterious probability by DeFine | 0.7363 (Deleterious) |
| Entrez Gene ID | 23150 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FRMD4B (GeneCards) |
| Number of variants in FRMD4B in this database | 8 (view all the variants) |
| Full name | FERM domain containing 4B |
| Band | 3p14.1 |
| Other IDs | Vega: OTTHUMG00000158772 OMIM: 617467 HGNC: HGNC:24886 Ensembl: ENSG00000114541 |
| Other names | GRSP1, 6030440G05Rik |
| Summary | This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |