Variant (rsID / SNP)

rs863225163

rs863225163 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,224,781. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPLANE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:37224781
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)
Allele change: Nonsense_R785X

Associated conditions / phenotypes

Joubert syndrome 17

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.