| Variant ID | 21961 |
|---|---|
| Entrez Gene ID | 284904 |
| Gene | SEC14L4 (GeneCards) |
| Location | hg19 22:30888572-30888572
hg38 22:30492585-30492585 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.30888572 G>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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0346 |
| CADD Raw score (version 1.3) | -0.046094 (Deleterious) |
| FATHMM raw prediction score | 0.17442 (Tolerated) |
| Deleterious probability by DeFine | 0.8026 (Deleterious) |
| Entrez Gene ID | 284904 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEC14L4 (GeneCards) |
| Number of variants in SEC14L4 in this database | 1 (view all the variants) |
| Full name | SEC14 like lipid binding 4 |
| Band | 22q12.2 |
| Other IDs | Vega: OTTHUMG00000151258 OMIM: 612825 HGNC: HGNC:20627 Ensembl: ENSG00000133488 |
| Other names | TAP3 |
| Summary | The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009] |
| 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; |