| Variant ID | 8974 |
|---|---|
| Entrez Gene ID | 60481 |
| Gene | ELOVL5 (GeneCards) |
| Location | hg19 6:53302013-53302013
hg38 6:53437215-53437215 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.53302013 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0009 |
| CADD Raw score (version 1.3) | 0.128118 (Deleterious) |
| FATHMM raw prediction score | 0.18477 (Tolerated) |
| Deleterious probability by DeFine | 0.69 (Deleterious) |
| Entrez Gene ID | 60481 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ELOVL5 (GeneCards) |
| Number of variants in ELOVL5 in this database | 2 (view all the variants) |
| Full name | ELOVL fatty acid elongase 5 |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000016249 OMIM: 611805 HGNC: HGNC:21308 Ensembl: ENSG00000012660 |
| Other names | HELO1, SCA38, dJ483K16.1 |
| Summary | This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] |
| 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; |