| Variant ID | 7213 |
|---|---|
| Entrez Gene ID | 345062 |
| Gene | PRSS48 (GeneCards) |
| Location | hg19 4:152252133-152252133
hg38 4:151330981-151330981 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.152252133 A>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0165 |
| CADD Raw score (version 1.3) | 0.687918 (Deleterious) |
| FATHMM raw prediction score | 0.23529 (Tolerated) |
| Deleterious probability by DeFine | 0.1158 (Neutral) |
| Entrez Gene ID | 345062 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRSS48 (GeneCards) |
| Number of variants in PRSS48 in this database | 6 (view all the variants) |
| Full name | serine protease 48 |
| Band | 4q31.3 |
| Other IDs | Vega: OTTHUMG00000161673 HGNC: HGNC:24635 Ensembl: ENSG00000189099 |
| Other names | ESSPL |
| 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; |