| Variant ID | 476 |
|---|---|
| Entrez Gene ID | 4763 |
| Gene | NF1 (GeneCards) |
| Location | hg19 17:29661945-29661945
hg38 17:31334927-31334927 |
| Disease | Neurofibromatosis type1 (view all the variants in this disease) |
| Method | DHPLC |
| Mutation(HGVS format) | NC_000017.10:g.29661945 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 31 |
| Position in protein | 1947 |
| Amino acid changes in protein | R > Z |
| Position in cDNA | 5839 |
| Changes in cDNA | C > T |
| mRNA accession | NM_000267.3 |
| mRNA length | 8457 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5174 |
| CADD Raw score (version 1.3) | 3.126328 (Deleterious) |
| FATHMM raw prediction score | 0.98918 (Tolerated) |
| Deleterious probability by DeFine | 0.9315 (Deleterious) |
| Entrez Gene ID | 4763 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NF1 (GeneCards) |
| Number of variants in NF1 in this database | 53 (view all the variants) |
| Full name | neurofibromin 1 |
| Band | 17q11.2 |
| Other IDs | Vega: OTTHUMG00000132871 OMIM: 613113 HGNC: HGNC:7765 Ensembl: ENSG00000196712 |
| Other names | WSS, NFNS, VRNF |
| Summary | This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 16117786.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 16117786 |
| Whose mosaic mutation | Mother |
| Phenotype | 3 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Neurofibromatosis type1 (view all the variants in this disease) |
| OMIM ID | 162200 |
| Pubmed ID | 16117786 |
|---|---|
| Title | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1 |
| Journal | Journal of Investigative Dermatology |
| Publication date | 2005.09 |
| Disease | Neurofibromatosis type1 |
| Number of cases | Female cases: 1; |