Variant (rsID / SNP)

rs77277189

rs77277189 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,641,188. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CNGB3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:87641188
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)
Allele change: Missense_R480Q

Associated conditions / phenotypes

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.