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Variant (rsID / SNP)

rs186448979

CNGB3

rs186448979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,588,047. 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
8:87588047
Cytoband
8q21.3
HGVS
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
Allele change
Missense_E805D

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.