| Variant ID | 4360 |
|---|---|
| Entrez Gene ID | 728773 |
| Gene | PABPC1P2 (GeneCards) |
| Location | hg19 2:148504633-148504633
hg38 2:147747064-147747064 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.148504633 T>C (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0531 |
| CADD Raw score (version 1.3) | 1.007904 (Deleterious) |
| FATHMM raw prediction score | 0.40345 (Tolerated) |
| Deleterious probability by DeFine | 0.0503 (Neutral) |
| Entrez Gene ID | 728773 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PABPC1P2 (GeneCards) |
| Number of variants in PABPC1P2 in this database | 17 (view all the variants) |
| Full name | poly(A) binding protein cytoplasmic 1 pseudogene 2 |
| Band | 2q22.3 |
| Other IDs | HGNC: HGNC:8559 |
| Other names | PABP2, PABP4, PABPCP2, PABPCP4 |
| Summary | None |
| Individual ID | 29217584.19 (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; |