| Variant ID | 19152 |
|---|---|
| Entrez Gene ID | 57194 |
| Gene | ATP10A (GeneCards) |
| Location | hg19 15:25998216-25998216
hg38 15:25753069-25753069 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.25998216 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.35 |
| CADD Raw score (version 1.3) | 0.008616 (Deleterious) |
| FATHMM raw prediction score | 0.07346 (Tolerated) |
| Deleterious probability by DeFine | 0.0627 (Neutral) |
| Entrez Gene ID | 57194 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP10A (GeneCards) |
| Number of variants in ATP10A in this database | 4 (view all the variants) |
| Full name | ATPase phospholipid transporting 10A (putative) |
| Band | 15q12 |
| Other IDs | Vega: OTTHUMG00000171703 OMIM: 605855 HGNC: HGNC:13542 Ensembl: ENSG00000206190 |
| Other names | ATPVA, ATPVC, ATP10C |
| Summary | The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.15 (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; |