| Variant ID | 24046 |
|---|---|
| Entrez Gene ID | 245932 |
| Gene | DEFB119 (GeneCards) |
| Location | hg19 20:29970711-29970711
hg38 20:31382908-31382908 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000020.10:g.29970711 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 | -0.374 |
| CADD Raw score (version 1.3) | 0.063521 (Deleterious) |
| FATHMM raw prediction score | 0.06471 (Tolerated) |
| Deleterious probability by DeFine | 0.4026 (Neutral) |
| Entrez Gene ID | 245932 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DEFB119 (GeneCards) |
| Number of variants in DEFB119 in this database | 2 (view all the variants) |
| Full name | defensin beta 119 |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032172 OMIM: 615997 HGNC: HGNC:18099 Ensembl: ENSG00000180483 |
| Other names | DEFB20, DEFB-19, DEFB-20, DEFB120, ESC42-RELA, ESC42-RELB |
| Summary | This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] |
| 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; |