| Variant ID | 17000 |
|---|---|
| Entrez Gene ID | 653247 |
| Gene | PRB2 (GeneCards) |
| Location | hg19 12:11651728-11651728
hg38 12:11498794-11498794 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.11651728 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.074 |
| CADD Raw score (version 1.3) | -0.08211 (Deleterious) |
| FATHMM raw prediction score | 0.08165 (Tolerated) |
| Deleterious probability by DeFine | 0.1134 (Neutral) |
| Entrez Gene ID | 653247 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRB2 (GeneCards) |
| Number of variants in PRB2 in this database | 6 (view all the variants) |
| Full name | proline rich protein BstNI subfamily 2 |
| Band | 12p13.2 |
| Other IDs | Vega: OTTHUMG00000156975 OMIM: 168810 HGNC: HGNC:9338 Ensembl: ENSG00000121335 |
| Other names | Ps, cP7, IB-9, PRPPRB1 |
| Summary | This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |