| Variant ID | 2694 |
|---|---|
| Entrez Gene ID | 80003 |
| Gene | PCNXL2 (GeneCards) |
| Location | hg19 1:233167136-233167136
hg38 1:233031390-233031390 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.233167136 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0871 |
| CADD Raw score (version 1.3) | 0.041107 (Deleterious) |
| FATHMM raw prediction score | 0.16119 (Tolerated) |
| Deleterious probability by DeFine | 0.3739 (Neutral) |
| Entrez Gene ID | 80003 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCNXL2 (GeneCards) |
| Number of variants in PCNX2 in this database | 3 (view all the variants) |
| Full name | pecanex 2 |
| Band | 1q42.2 |
| Other IDs | Vega: OTTHUMG00000037824 OMIM: 617656 HGNC: HGNC:8736 Ensembl: ENSG00000135749 |
| Other names | PCNXL2 |
| Summary | This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016] |
| 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; |