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Variant (rsID / SNP)

rs147346345

CDHR1

rs147346345 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDHR1. Location: chromosome 10, position 85,962,879. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDHR1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:85962879
Cytoband
10q23.1
HGVS
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
Allele change
Synonymous_P261P

Associated conditions / phenotypes

Cone-Rod Dystrophy, Recessive|Cone-rod dystrophy 15|Retinal dystrophy|Retinitis pigmentosa

Public references

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