Variant (rsID / SNP)

rs76061451

rs76061451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA1. Location: chromosome 4, position 47,945,417. 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: 4:47945417
Cytoband: 4p12
HGVS: NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)
Allele change: Silent

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 49

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.