| Variant ID | 9000 |
|---|---|
| Entrez Gene ID | 8676 |
| Gene | STX11 (GeneCards) |
| Location | hg19 6:144607098-144607098
hg38 6:144285962-144285962 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.144607098 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7567 |
| CADD Raw score (version 1.3) | 0.663773 (Deleterious) |
| FATHMM raw prediction score | 0.22877 (Tolerated) |
| Deleterious probability by DeFine | 0.8997 (Deleterious) |
| Entrez Gene ID | 8676 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STX11 (GeneCards) |
| Number of variants in STX11 in this database | 1 (view all the variants) |
| Full name | syntaxin 11 |
| Band | 6q24.2 |
| Other IDs | Vega: OTTHUMG00000015739 OMIM: 605014 HGNC: HGNC:11429 Ensembl: ENSG00000135604 |
| Other names | FHL4, HLH4, HPLH4 |
| Summary | This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008] |
| 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; |