| Variant ID | 22812 |
|---|---|
| Entrez Gene ID | 23150 |
| Gene | FRMD4B (GeneCards) |
| Location | hg19 3:69776590-69776590
hg38 3:69727439-69727439 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000003.11:g.69776590 G>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.086 |
| CADD Raw score (version 1.3) | 0.102196 (Deleterious) |
| FATHMM raw prediction score | 0.07477 (Tolerated) |
| Deleterious probability by DeFine | 0.2095 (Neutral) |
| 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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |