| Variant ID | 28547 |
|---|---|
| Entrez Gene ID | 245938 |
| Gene | DEFB125 (GeneCards) |
| Location | hg19 20:68232-68232
hg38 20:87591-87591 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000020.10:g.68232 C>A (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 | 0.7183 |
| CADD Raw score (version 1.3) | 2.417203 (Deleterious) |
| FATHMM raw prediction score | 0.46752 (Tolerated) |
| Deleterious probability by DeFine | 0.5321 (Deleterious) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |