Variant (rsID / SNP)

rs372504780

rs372504780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,984,367. Clinical significance in the table: Pathogenic.

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Reference-table entries

CNGB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:57984367
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)
Allele change: Nonsense_Q312X

Associated conditions / phenotypes

Retinitis pigmentosa|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.