Variant (rsID / SNP)

rs13336595

rs13336595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,996,960. 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: 16:57996960
Cytoband: 16q21
HGVS: NM_001297.5(CNGB1):c.299G>A (p.Arg100His)
Allele change: Missense_R100H

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 45

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.