Variant (rsID / SNP)

rs372006750

rs372006750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,638,210. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CNGB3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:87638210
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.1578+1G>A
Allele change: Silent

Associated conditions / phenotypes

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.