| Variant ID | 1462 |
|---|---|
| Entrez Gene ID | 4763 |
| Gene | NF1 (GeneCards) |
| Location | hg19 17:29548880-29548880
hg38 17:31221862-31221862 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.29548880 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 552 |
| Amino acid changes in protein | L > I |
| Position in cDNA | 1654 |
| Changes in cDNA | C > A |
| mRNA accession | NM_001128147.2 |
| mRNA length | 2939 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7697 |
| CADD Raw score (version 1.3) | 6.705349 (Deleterious) |
| FATHMM raw prediction score | 0.9692 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.395 (Deleterious) |
| PROVEAN score | -1.34 (Tolerated) |
| MetaSVM score | 0.013 (Deleterious) |
| MetaLR score | 0.513 (Deleterious) |
| MCAP score | 0.612 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.78 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.797 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.002 |
| Deleterious probability by iFish2 | 0.8383 (Deleterious) |
| Deleterious probability by DeFine | 0.9261 (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 | 28699658.20 (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; |