Variant (rsID / SNP)

rs35010099

rs35010099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,641,230. Clinical significance in the table: Benign.

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Reference-table entries

CNGB3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:87641230
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
Allele change: Missense_M466T

Associated conditions / phenotypes

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