| Variant ID | 20081 |
|---|---|
| Entrez Gene ID | 4763 |
| Gene | NF1 (GeneCards) |
| Location | hg19 17:29653767-29653767
hg38 17:31326749-31326749 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.29653767 T>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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0686 |
| CADD Raw score (version 1.3) | 0.131051 (Deleterious) |
| FATHMM raw prediction score | 0.15216 (Tolerated) |
| Deleterious probability by DeFine | 0.3723 (Neutral) |
| 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 | 29217584.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |