Variant (rsID / SNP)
rs387906881
rs387906881 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,012,488. Clinical significance in the table: Pathogenic.
Reference-table entries
GOSR2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:45012488
- Cytoband
- 17q21.32
- HGVS
- NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
- Allele change
- Missense_G144W
Associated conditions / phenotypes
Progressive myoclonic epilepsy type 6|Muscular dystrophy|Progressive myoclonic epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.