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Variant (rsID / SNP)

rs140621272

CDHR1

rs140621272 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDHR1. Location: chromosome 10, position 85,968,099. 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
10:85968099
Cytoband
10q23.1
HGVS
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
Allele change
Missense_R378Q

Associated conditions / phenotypes

Cone-Rod Dystrophy, Recessive|Cone-rod dystrophy 15

Public references

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