| Variant ID | 34584 |
|---|---|
| Entrez Gene ID | 22981 |
| Gene | NINL (GeneCards) |
| Location | hg19 20:25524451-25524451
hg38 20:25543815-25543815 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000020.10:g.25524451 G>A (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3669 |
| CADD Raw score (version 1.3) | 0.078385 (Deleterious) |
| FATHMM raw prediction score | 0.12767 (Tolerated) |
| Deleterious probability by DeFine | 0.322 (Neutral) |
| Entrez Gene ID | 22981 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NINL (GeneCards) |
| Number of variants in NINL in this database | 2 (view all the variants) |
| Full name | ninein like |
| Band | 20p11.21 |
| Other IDs | Vega: OTTHUMG00000032127 OMIM: 609580 HGNC: HGNC:29163 Ensembl: ENSG00000101004 |
| Other names | NLP |
| Summary | None |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |