| Variant ID | 4665 |
|---|---|
| Entrez Gene ID | 285195 |
| Gene | SLC9A9 (GeneCards) |
| Location | hg19 3:143442445-143442445
hg38 3:143723603-143723603 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.143442445 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.1847 |
| CADD Raw score (version 1.3) | -0.276877 (Deleterious) |
| FATHMM raw prediction score | 0.11629 (Tolerated) |
| Deleterious probability by DeFine | 0.4185 (Neutral) |
| Entrez Gene ID | 285195 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC9A9 (GeneCards) |
| Number of variants in SLC9A9 in this database | 6 (view all the variants) |
| Full name | solute carrier family 9 member A9 |
| Band | 3q24 |
| Other IDs | Vega: OTTHUMG00000159373 OMIM: 608396 HGNC: HGNC:20653 Ensembl: ENSG00000181804 |
| Other names | NHE9, AUTS16 |
| Summary | This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012] |
| 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; |