| Variant ID | 1608 |
|---|---|
| Entrez Gene ID | 84288 |
| Gene | EFCAB2 (GeneCards) |
| Location | hg19 1:245213051-245213051
hg38 1:245049749-245049749 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.245213051 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2538 |
| CADD Raw score (version 1.3) | -0.117361 (Deleterious) |
| FATHMM raw prediction score | 0.11894 (Tolerated) |
| Deleterious probability by DeFine | 0.554 (Deleterious) |
| Entrez Gene ID | 84288 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EFCAB2 (GeneCards) |
| Number of variants in EFCAB2 in this database | 3 (view all the variants) |
| Full name | EF-hand calcium binding domain 2 |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040474 HGNC: HGNC:28166 Ensembl: ENSG00000203666 |
| Other names | DRC8, CFAP200 |
| Summary | The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.01 (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; |