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Variant (rsID / SNP)

rs35365413

CNGB3

rs35365413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,641,222. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:87641222
Cytoband
8q21.3
HGVS
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
Allele change
Missense_Y469D

Associated conditions / phenotypes

Severe early-childhood-onset retinal dystrophy|Achromatopsia 3|Achromatopsia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.