| Variant ID | 18700 |
|---|---|
| Entrez Gene ID | 866 |
| Gene | SERPINA6 (GeneCards) |
| Location | hg19 14:94804032-94804032
hg38 14:94337695-94337695 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.94804032 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6002 |
| CADD Raw score (version 1.3) | -0.068971 (Deleterious) |
| FATHMM raw prediction score | 0.09714 (Tolerated) |
| Deleterious probability by DeFine | 0.0681 (Neutral) |
| Entrez Gene ID | 866 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SERPINA6 (GeneCards) |
| Number of variants in SERPINA6 in this database | 5 (view all the variants) |
| Full name | serpin family A member 6 |
| Band | 14q32.13 |
| Other IDs | Vega: OTTHUMG00000171346 OMIM: 122500 HGNC: HGNC:1540 Ensembl: ENSG00000170099 |
| Other names | CBG |
| Summary | This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |