| Variant ID | 21136 |
|---|---|
| Entrez Gene ID | 128488 |
| Gene | WFDC12 (GeneCards) |
| Location | hg19 20:43761303-43761303
hg38 20:45132662-45132662 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.43761303 C>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0566 |
| CADD Raw score (version 1.3) | 1.661295 (Deleterious) |
| FATHMM raw prediction score | 0.66505 (Tolerated) |
| Deleterious probability by DeFine | 0.1431 (Neutral) |
| Entrez Gene ID | 128488 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WFDC12 (GeneCards) |
| Number of variants in WFDC12 in this database | 1 (view all the variants) |
| Full name | WAP four-disulfide core domain 12 |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000046412 OMIM: 609872 HGNC: HGNC:16115 Ensembl: ENSG00000168703 |
| Other names | WAP2, SWAM2, C20orf122, dJ211D12.4 |
| Summary | This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008] |
| 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; |