Variant (rsID / SNP)

rs11593005

rs11593005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDHR1. Location: chromosome 10, position 85,956,349. 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: 10:85956349
Cytoband: 10q23.1
HGVS: NM_033100.4(CDHR1):c.240C>T (p.Val80=)
Allele change: Synonymous_V80V

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.