| Variant ID | 7224 |
|---|---|
| Entrez Gene ID | 133308 |
| Gene | SLC9B2 (GeneCards) |
| Location | hg19 4:103950496-103950496
hg38 4:103029339-103029339 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.103950496 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2678 |
| CADD Raw score (version 1.3) | -0.271635 (Deleterious) |
| FATHMM raw prediction score | 0.11083 (Tolerated) |
| Deleterious probability by DeFine | 0.483 (Neutral) |
| Entrez Gene ID | 133308 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC9B2 (GeneCards) |
| Number of variants in SLC9B2 in this database | 1 (view all the variants) |
| Full name | solute carrier family 9 member B2 |
| Band | 4q24 |
| Other IDs | Vega: OTTHUMG00000131125 OMIM: 611789 HGNC: HGNC:25143 Ensembl: ENSG00000164038 |
| Other names | NHA2, NHE10, NHEDC2 |
| Summary | Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |