Variant (rsID / SNP)
rs1052586
rs1052586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,018,463. Clinical significance in the table: Benign.
Reference-table entries
GOSR2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:45018463
- Cytoband
- 17q21.32
- HGVS
- NM_004287.5(GOSR2):c.*2337T>C
- Allele change
- Silent
Associated conditions / phenotypes
Progressive myoclonic epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.