| Variant ID | 23984 |
|---|---|
| Entrez Gene ID | 5055 |
| Gene | SERPINB2 (GeneCards) |
| Location | hg19 18:61573269-61573269
hg38 18:63906035-63906035 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000018.9:g.61573269 G>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0076 |
| CADD Raw score (version 1.3) | -0.266494 (Deleterious) |
| FATHMM raw prediction score | 0.15771 (Tolerated) |
| Deleterious probability by DeFine | 0.3977 (Neutral) |
| Entrez Gene ID | 5055 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SERPINB2 (GeneCards) |
| Number of variants in SERPINB2 in this database | 2 (view all the variants) |
| Full name | serpin family B member 2 |
| Band | 18q21.33-q22.1 |
| Other IDs | Vega: OTTHUMG00000060592 OMIM: 173390 HGNC: HGNC:8584 Ensembl: ENSG00000197632 |
| Other names | PAI, PAI2, PAI-2, PLANH2, HsT1201 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |