| Variant ID | 1463 |
|---|---|
| Entrez Gene ID | 4763 |
| Gene | NF1 (GeneCards) |
| Location | hg19 17:29676268-29676268
hg38 17:31349250-31349250 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.29676268_29676268 del (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon nc | 1 |
| Position in protein | 2441 |
| Amino acid changes in protein | A > NA |
| Frameshift | fs |
| Position in cDNA | 7321 |
| Changes in cDNA | GG > NA |
| Indel | delGG |
| mRNA accession | NM_001128147.2 |
| mRNA length | 2939 |
| Reference length | 81195210 |
| Deleterious probability by DeFine | 0.9339 (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 | 28699658.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |