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Variant (rsID / SNP)

rs147876778

CNGB3

rs147876778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,645,092. 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
8:87645092
Cytoband
8q21.3
HGVS
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
Allele change
Missense_R403Q

Associated conditions / phenotypes

Achromatopsia 3|Abnormality of the eye|Achromatopsia|Retinitis pigmentosa|Severe early-childhood-onset retinal dystrophy

Public references

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