Variant (rsID / SNP)

rs45584033

rs45584033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDHR1. Location: chromosome 10, position 85,974,231. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CDHR1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:85974231
Cytoband: 10q23.1
HGVS: NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser)
Allele change: Missense_P812S

Associated conditions / phenotypes

Cone-Rod Dystrophy, Recessive

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.