Variant (rsID / SNP)

rs137876961

rs137876961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDHR1. Location: chromosome 10, position 85,972,932. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDHR1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:85972932
Cytoband: 10q23.1
HGVS: NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
Allele change: Missense_N623S

Associated conditions / phenotypes

Cone-rod dystrophy 15

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.