| Variant ID | 34442 |
|---|---|
| Entrez Gene ID | 64168 |
| Gene | NECAB1 (GeneCards) |
| Location | hg19 8:91818294-91818294
hg38 8:90806066-90806066 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000008.10:g.91818294 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4541 |
| CADD Raw score (version 1.3) | -0.31243 (Deleterious) |
| FATHMM raw prediction score | 0.06241 (Tolerated) |
| Deleterious probability by DeFine | 0.5304 (Deleterious) |
| Entrez Gene ID | 64168 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NECAB1 (GeneCards) |
| Number of variants in NECAB1 in this database | 4 (view all the variants) |
| Full name | N-terminal EF-hand calcium binding protein 1 |
| Band | 8q21.3 |
| Other IDs | Vega: OTTHUMG00000164009 HGNC: HGNC:20983 Ensembl: ENSG00000123119 |
| Other names | EFCBP1, STIP-1 |
| 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; |