Variant (rsID / SNP)
rs148979783
rs148979783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCE. Location: chromosome 7, position 94,248,126. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SGCEConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:94248126
- Cytoband
- 7q21.3
- HGVS
- NM_003919.3(SGCE):c.606A>G (p.Thr202=)
- Allele change
- Synonymous_T202T
Associated conditions / phenotypes
Myoclonic dystonia 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.