| Variant ID | 15026 |
|---|---|
| Entrez Gene ID | 57586 |
| Gene | SYT13 (GeneCards) |
| Location | hg19 11:45301224-45301224
hg38 11:45279673-45279673 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.45301224 T>C (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3231 |
| CADD Raw score (version 1.3) | -0.179203 (Deleterious) |
| FATHMM raw prediction score | 0.09259 (Tolerated) |
| Deleterious probability by DeFine | 0.2991 (Neutral) |
| Entrez Gene ID | 57586 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYT13 (GeneCards) |
| Number of variants in SYT13 in this database | 3 (view all the variants) |
| Full name | synaptotagmin 13 |
| Band | 11p11.2 |
| Other IDs | Vega: OTTHUMG00000166504 OMIM: 607716 HGNC: HGNC:14962 Ensembl: ENSG00000019505 |
| Other names | None |
| Summary | This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] |
| 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; |