| Variant ID | 25925 |
|---|---|
| Entrez Gene ID | 22987 |
| Gene | SV2C (GeneCards) |
| Location | hg19 5:75645493-75645493
hg38 5:76349668-76349668 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.75645493 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0317 |
| CADD Raw score (version 1.3) | 0.404778 (Deleterious) |
| FATHMM raw prediction score | 0.13078 (Tolerated) |
| Deleterious probability by DeFine | 0.5354 (Deleterious) |
| Entrez Gene ID | 22987 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SV2C (GeneCards) |
| Number of variants in SV2C in this database | 4 (view all the variants) |
| Full name | synaptic vesicle glycoprotein 2C |
| Band | 5q13.3 |
| Other IDs | Vega: OTTHUMG00000162384 OMIM: 610291 HGNC: HGNC:30670 Ensembl: ENSG00000122012 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |