Variant (rsID / SNP)

rs2161703

rs2161703 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,954,448. Clinical significance in the table: Benign.

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Reference-table entries

CNGB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:57954448
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.1644T>C (p.Asp548=)
Allele change: Synonymous_D542D

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.