Variant (rsID / SNP)
rs386833676
rs386833676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHM. Clinical significance in the table: Pathogenic.
Reference-table entries
CHMPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Cytoband
- Xq21.2
- HGVS
- NM_000390.4(CHM):c.1609+2dup
Associated conditions / phenotypes
Choroideremia|Choroideremia, Salla type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.