| Variant ID | 16888 |
|---|---|
| Entrez Gene ID | 9194 |
| Gene | SLC16A7 (GeneCards) |
| Location | hg19 12:60377447-60377447
hg38 12:59983666-59983666 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.60377447 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) | 0.00003235 |
|---|---|
| EIGEN score | -0.2746 |
| CADD Raw score (version 1.3) | 0.141175 (Deleterious) |
| FATHMM raw prediction score | 0.08415 (Tolerated) |
| Deleterious probability by DeFine | 0.0409 (Neutral) |
| Entrez Gene ID | 9194 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC16A7 (GeneCards) |
| Number of variants in SLC16A7 in this database | 22 (view all the variants) |
| Full name | solute carrier family 16 member 7 |
| Band | 12q14.1 |
| Other IDs | Vega: OTTHUMG00000169923 OMIM: 603654 HGNC: HGNC:10928 Ensembl: ENSG00000118596 |
| Other names | MCT2 |
| Summary | This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] |
| Individual ID | 29217584.16 (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; |