Variant (rsID / SNP)
rs775796581
rs775796581 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,679,179. Clinical significance in the table: Pathogenic.
Reference-table entries
CNGB3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 8:87679179
- Cytoband
- 8q21.3
- HGVS
- NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
Associated conditions / phenotypes
Nystagmus|Abnormal electroretinogram|Achromatopsia 3|Leber congenital amaurosis|Achromatopsia|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.