| Variant ID | 19358 |
|---|---|
| Entrez Gene ID | 221191 |
| Gene | PRSS54 (GeneCards) |
| Location | hg19 16:58391237-58391237
hg38 16:58357333-58357333 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.58391237 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2991 |
| CADD Raw score (version 1.3) | -0.045176 (Deleterious) |
| FATHMM raw prediction score | 0.08638 (Tolerated) |
| Deleterious probability by DeFine | 0.0812 (Neutral) |
| Entrez Gene ID | 221191 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRSS54 (GeneCards) |
| Number of variants in PRSS54 in this database | 2 (view all the variants) |
| Full name | serine protease 54 |
| Band | 16q21 |
| Other IDs | Vega: OTTHUMG00000173231 HGNC: HGNC:26336 Ensembl: ENSG00000103023 |
| Other names | CT67, KLKBL4 |
| Summary | This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |