| Variant ID | 8715 |
|---|---|
| Entrez Gene ID | 28965 |
| Gene | SLC27A6 (GeneCards) |
| Location | hg19 5:128393114-128393114
hg38 5:129057421-129057421 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.128393114 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3824 |
| CADD Raw score (version 1.3) | -0.105249 (Deleterious) |
| FATHMM raw prediction score | 0.0544 (Tolerated) |
| Deleterious probability by DeFine | 0.0928 (Neutral) |
| Entrez Gene ID | 28965 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC27A6 (GeneCards) |
| Number of variants in SLC27A6 in this database | 1 (view all the variants) |
| Full name | solute carrier family 27 member 6 |
| Band | 5q23.3 |
| Other IDs | Vega: OTTHUMG00000128991 OMIM: 604196 HGNC: HGNC:11000 Ensembl: ENSG00000113396 |
| Other names | FATP6, ACSVL2, FACVL2, VLCS-H1 |
| Summary | This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 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; |