| Variant ID | 13140 |
|---|---|
| Entrez Gene ID | 54801 |
| Gene | HAUS6 (GeneCards) |
| Location | hg19 9:19076987-19076987
hg38 9:19076989-19076989 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.19076987 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2196 |
| CADD Raw score (version 1.3) | 0.005651 (Deleterious) |
| FATHMM raw prediction score | 0.09871 (Tolerated) |
| Deleterious probability by DeFine | 0.1889 (Neutral) |
| Entrez Gene ID | 54801 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HAUS6 (GeneCards) |
| Number of variants in HAUS6 in this database | 2 (view all the variants) |
| Full name | HAUS augmin like complex subunit 6 |
| Band | 9p22.1 |
| Other IDs | Vega: OTTHUMG00000019622 OMIM: 613433 HGNC: HGNC:25948 Ensembl: ENSG00000147874 |
| Other names | Dgt6, FAM29A |
| Summary | The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012] |
| Individual ID | 29217584.08 (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; |