| Variant ID | 27310 |
|---|---|
| Entrez Gene ID | 81846 |
| Gene | SBF2 (GeneCards) |
| Location | hg19 11:10177166-10177166
hg38 11:10155619-10155619 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.10177166 C>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4288 |
| CADD Raw score (version 1.3) | -0.068412 (Deleterious) |
| FATHMM raw prediction score | 0.09812 (Tolerated) |
| Deleterious probability by DeFine | 0.2722 (Neutral) |
| Entrez Gene ID | 81846 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SBF2 (GeneCards) |
| Number of variants in SBF2 in this database | 3 (view all the variants) |
| Full name | SET binding factor 2 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000165890 OMIM: 607697 HGNC: HGNC:2135 Ensembl: ENSG00000133812 |
| Other names | CMT4B2, MTMR13, DENND7B |
| Summary | This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |