| Variant ID | 21472 |
|---|---|
| Entrez Gene ID | 245938 |
| Gene | DEFB125 (GeneCards) |
| Location | hg19 20:121037-121037
hg38 20:140396-140396 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.121037 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 | 0.215 |
| CADD Raw score (version 1.3) | 1.746725 (Deleterious) |
| FATHMM raw prediction score | 0.61665 (Tolerated) |
| Deleterious probability by DeFine | 0.0444 (Neutral) |
| Entrez Gene ID | 245938 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DEFB125 (GeneCards) |
| Number of variants in DEFB125 in this database | 3 (view all the variants) |
| Full name | defensin beta 125 |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031614 HGNC: HGNC:18105 Ensembl: ENSG00000178591 |
| Other names | DEFB-25 |
| Summary | Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |