| Variant ID | 18696 |
|---|---|
| Entrez Gene ID | 9056 |
| Gene | SLC7A7 (GeneCards) |
| Location | hg19 14:23268818-23268818
hg38 14:22799609-22799609 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.23268818 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2475 |
| CADD Raw score (version 1.3) | 0.222238 (Deleterious) |
| FATHMM raw prediction score | 0.11998 (Tolerated) |
| Deleterious probability by DeFine | 0.115 (Neutral) |
| Entrez Gene ID | 9056 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC7A7 (GeneCards) |
| Number of variants in SLC7A7 in this database | 4 (view all the variants) |
| Full name | solute carrier family 7 member 7 |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000028692 OMIM: 603593 HGNC: HGNC:11065 Ensembl: ENSG00000155465 |
| Other names | LPI, LAT3, MOP-2, Y+LAT1, y+LAT-1 |
| Summary | The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |