Variant (rsID / SNP)

rs35807406

rs35807406 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,755,776. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CNGB3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:87755776
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
Allele change: Missense_N27S

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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