Variant (rsID / SNP)

rs116564376

rs116564376 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,917,787. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CNGB1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:57917787
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.*281T>C
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa

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.