| Variant ID | 16111 |
|---|---|
| Entrez Gene ID | 196527 |
| Gene | ANO6 (GeneCards) |
| Location | hg19 12:45924490-45924490
hg38 12:45530707-45530707 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.45924490 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 | -0.4897 |
| CADD Raw score (version 1.3) | -0.267511 (Deleterious) |
| FATHMM raw prediction score | 0.05117 (Tolerated) |
| Deleterious probability by DeFine | 0.1726 (Neutral) |
| Entrez Gene ID | 196527 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANO6 (GeneCards) |
| Number of variants in ANO6 in this database | 5 (view all the variants) |
| Full name | anoctamin 6 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169564 OMIM: 608663 HGNC: HGNC:25240 Ensembl: ENSG00000177119 |
| Other names | SCTS, BDPLT7, TMEM16F |
| Summary | This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 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; |