Variant (rsID / SNP)

rs147593839

rs147593839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,965,773. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGB1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:57965773
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)
Allele change: Missense_T455M

Associated conditions / phenotypes

Retinal dystrophy|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.