| Variant ID | 16107 |
|---|---|
| Entrez Gene ID | 636 |
| Gene | BICD1 (GeneCards) |
| Location | hg19 12:32556351-32556351
hg38 12:32403417-32403417 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.32556351 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2186 |
| CADD Raw score (version 1.3) | -0.138772 (Deleterious) |
| FATHMM raw prediction score | 0.21048 (Tolerated) |
| Deleterious probability by DeFine | 0.2936 (Neutral) |
| Entrez Gene ID | 636 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BICD1 (GeneCards) |
| Number of variants in BICD1 in this database | 4 (view all the variants) |
| Full name | BICD cargo adaptor 1 |
| Band | 12p11.21 |
| Other IDs | Vega: OTTHUMG00000169307 OMIM: 602204 HGNC: HGNC:1049 Ensembl: ENSG00000151746 |
| Other names | BICD, bic-D1 |
| Summary | This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017] |
| 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; |