| Variant ID | 335 |
|---|---|
| Entrez Gene ID | 4771 |
| Gene | NF2 (GeneCards) |
| Location | hg19 22:30067841-30067842
hg38 22:29671852-29671853 |
| Disease | Adenomatous polyposis coli (view all the variants in this disease) |
| Method | ABI3130XL |
| Mutation(HGVS format) | NC_000022.10:g.30067841_30067842 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 1026 |
| Changes in cDNA | NA > NA |
| Indel | delGA |
| mRNA accession | NM_000268.3 |
| mRNA length | 1788 |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9323 (Deleterious) |
| Entrez Gene ID | 4771 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NF2 (GeneCards) |
| Number of variants in NF2 in this database | 2 (view all the variants) |
| Full name | neurofibromin 2 |
| Band | 22q12.2 |
| Other IDs | Vega: OTTHUMG00000030727 OMIM: 607379 HGNC: HGNC:7773 Ensembl: ENSG00000186575 |
| Other names | ACN, SCH, BANF |
| Summary | This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008] |
| Individual ID | 19347965.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19347965 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Adenomatous polyposis coli (view all the variants in this disease) |
| OMIM ID | 175100 |
| Pubmed ID | 19347965 |
|---|---|
| Title | Parallel Sequencing Used in Detection of Mosaic Mutations: Comparison With Four Diagnostic DNA Screening Techniques |
| Journal | Human Mutation |
| Publication date | 2009.06 |
| Disease | Neurofibromatosis type 2 and familial adenomatous polyposis |
| Number of cases | cases of unknown sex: 2; |