| Variant ID | 6868 |
|---|---|
| Entrez Gene ID | 987 |
| Gene | LRBA (GeneCards) |
| Location | hg19 4:151396190-151396190
hg38 4:150475038-150475038 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.151396190 T>C (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5716 |
| CADD Raw score (version 1.3) | -0.409972 (Deleterious) |
| FATHMM raw prediction score | 0.04644 (Tolerated) |
| Deleterious probability by DeFine | 0.2307 (Neutral) |
| Entrez Gene ID | 987 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRBA (GeneCards) |
| Number of variants in LRBA in this database | 6 (view all the variants) |
| Full name | LPS responsive beige-like anchor protein |
| Band | 4q31.3 |
| Other IDs | Vega: OTTHUMG00000161443 OMIM: 606453 HGNC: HGNC:1742 Ensembl: ENSG00000198589 |
| Other names | BGL, LBA, CDC4L, CVID8, LAB300 |
| Summary | The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.13 (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; |