Gene entry
GOSR2
golgi SNAP receptor complex member 2
- Chromosome
- 17
- Cytoband
- 17q21.32
- Variants (rsID)
- 19
GOSR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.32). Its official name is “golgi SNAP receptor complex member 2”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1052586Benignsingle nucleotide variantProgressive myoclonic epilepsy
- rs12944167Benignsingle nucleotide variantProgressive myoclonic epilepsy|Seizure
- rs197922Benignsingle nucleotide variantProgressive myoclonic epilepsy|Seizure|Myoclonic epilepsy, progressive, X-linked|Progressive myoclonic epilepsy type 6
- rs758391Benignsingle nucleotide variantProgressive myoclonic epilepsy
- rs113817924Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy|Seizure
- rs138510884Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy
- rs143754727Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy
- rs200210055Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy|Progressive myoclonic epilepsy type 6
- rs573306680Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy|Progressive myoclonic epilepsy type 6
- rs747791818Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy type 6
- rs778066395Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy
- rs387906881Pathogenicsingle nucleotide variantProgressive myoclonic epilepsy type 6|Muscular dystrophy|Progressive myoclonic epilepsy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.