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Variant (rsID / SNP)

rs201162411

CNGB1

rs201162411 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGB1. Location: chromosome 16, position 57,935,275. 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
16:57935275
Cytoband
16q21
HGVS
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
Allele change
Missense_N980I

Associated conditions / phenotypes

Retinitis pigmentosa|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 45

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.