| Variant ID | 17136 |
|---|---|
| Entrez Gene ID | 26960 |
| Gene | NBEA (GeneCards) |
| Location | hg19 13:35645485-35645485
hg38 13:35071348-35071348 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.35645485 A>G (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs188246264 |
| EIGEN score | 0.3166 |
| CADD Raw score (version 1.3) | 0.401814 (Deleterious) |
| FATHMM raw prediction score | 0.20233 (Tolerated) |
| Deleterious probability by DeFine | 0.4908 (Neutral) |
| Entrez Gene ID | 26960 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NBEA (GeneCards) |
| Number of variants in NBEA in this database | 6 (view all the variants) |
| Full name | neurobeachin |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016724 OMIM: 604889 HGNC: HGNC:7648 Ensembl: ENSG00000172915 |
| Other names | BCL8B, LYST2 |
| Summary | This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011] |
| Individual ID | 29217584.03 (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; |