| Variant ID | 28184 |
|---|---|
| Entrez Gene ID | 221191 |
| Gene | PRSS54 (GeneCards) |
| Location | hg19 16:58405476-58405476
hg38 16:58371572-58371572 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000016.9:g.58405476 A>T (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 | -0.392 |
| CADD Raw score (version 1.3) | -0.285481 (Deleterious) |
| FATHMM raw prediction score | 0.07472 (Tolerated) |
| Deleterious probability by DeFine | 0.0571 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |