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Variant (rsID / SNP)

rs192912733

CNGA1

rs192912733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA1. Location: chromosome 4, position 47,939,240. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGA1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:47939240
Cytoband
4p12
HGVS
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
Allele change
Silent

Associated conditions / phenotypes

Retinitis pigmentosa 49|Retinitis pigmentosa

Public references

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