Variant (rsID / SNP)

rs373862340

rs373862340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB3. Location: chromosome 8, position 87,656,899. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CNGB3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:87656899
Cytoband: 8q21.3
HGVS: NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
Allele change: Nonsense_E336X

Associated conditions / phenotypes

Achromatopsia 3|Achromatopsia|Retinal dystrophy

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.