| Variant ID | 19611 |
|---|---|
| Entrez Gene ID | 54550 |
| Gene | NECAB2 (GeneCards) |
| Location | hg19 16:84014433-84014433
hg38 16:83980828-83980828 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.84014433 T>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2639 |
| CADD Raw score (version 1.3) | 0.28935 (Deleterious) |
| FATHMM raw prediction score | 0.26378 (Tolerated) |
| Deleterious probability by DeFine | 0.7186 (Deleterious) |
| Entrez Gene ID | 54550 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NECAB2 (GeneCards) |
| Number of variants in NECAB2 in this database | 2 (view all the variants) |
| Full name | N-terminal EF-hand calcium binding protein 2 |
| Band | 16q23.3 |
| Other IDs | Vega: OTTHUMG00000137636 HGNC: HGNC:23746 Ensembl: ENSG00000103154 |
| Other names | EFCBP2, stip-2 |
| Summary | The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016] |
| Individual ID | 29217584.13 (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; |