Variant (rsID / SNP)

rs4961206

rs4961206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,666,251. 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: 8:87666251
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
Allele change: Missense_T298P

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.