| Variant ID | 16098 |
|---|---|
| Entrez Gene ID | 57101 |
| Gene | ANO2 (GeneCards) |
| Location | hg19 12:5696688-5696688
hg38 12:5587522-5587522 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.5696688 G>A (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 | 0.1668 |
| CADD Raw score (version 1.3) | 0.098034 (Deleterious) |
| FATHMM raw prediction score | 0.21736 (Tolerated) |
| Deleterious probability by DeFine | 0.6976 (Deleterious) |
| Entrez Gene ID | 57101 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANO2 (GeneCards) |
| Number of variants in ANO2 in this database | 6 (view all the variants) |
| Full name | anoctamin 2 |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000168264 OMIM: 610109 HGNC: HGNC:1183 Ensembl: ENSG00000047617 |
| Other names | C12orf3, TMEM16B |
| Summary | ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 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; |