| Variant ID | 2070 |
|---|---|
| Entrez Gene ID | 255928 |
| Gene | SYT14 (GeneCards) |
| Location | hg19 1:210320575-210320575
hg38 1:210147230-210147230 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.210320575 A>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0589 |
| CADD Raw score (version 1.3) | 0.583847 (Deleterious) |
| FATHMM raw prediction score | 0.11314 (Tolerated) |
| Deleterious probability by DeFine | 0.1687 (Neutral) |
| Entrez Gene ID | 255928 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYT14 (GeneCards) |
| Number of variants in SYT14 in this database | 3 (view all the variants) |
| Full name | synaptotagmin 14 |
| Band | 1q32.2 |
| Other IDs | Vega: OTTHUMG00000036652 OMIM: 610949 HGNC: HGNC:23143 Ensembl: ENSG00000143469 |
| Other names | SCAR11, sytXIV |
| Summary | This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.09 (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; |