Variant (rsID / SNP)
rs397515360
rs397515360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,656,009. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CNGB3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 8:87656009
- Cytoband
- 8q21.3
- HGVS
- NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
Associated conditions / phenotypes
Achromatopsia 3|Stargardt Disease, Recessive|Achromatopsia|Leber congenital amaurosis|Retinal dystrophy|Abnormality of the eye|Retinitis pigmentosa|CNGB3-Related Disorders|Cone-rod dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.