| Variant ID | 19687 |
|---|---|
| Entrez Gene ID | 54386 |
| Gene | TERF2IP (GeneCards) |
| Location | hg19 16:75989891-75989891
hg38 16:75955993-75955993 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.75989891 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6539 |
| CADD Raw score (version 1.3) | -0.189844 (Deleterious) |
| FATHMM raw prediction score | 0.03928 (Tolerated) |
| Deleterious probability by DeFine | 0.1507 (Neutral) |
| Entrez Gene ID | 54386 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TERF2IP (GeneCards) |
| Number of variants in TERF2IP in this database | 5 (view all the variants) |
| Full name | TERF2 interacting protein |
| Band | 16q23.1 |
| Other IDs | Vega: OTTHUMG00000177136 OMIM: 605061 HGNC: HGNC:19246 Ensembl: ENSG00000166848 |
| Other names | RAP1, DRIP5 |
| Summary | The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |