Variant (rsID / SNP)

rs367543062

rs367543062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,167,148. 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: 5:37167148
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.7400+1G>A
Allele change: Silent

Associated conditions / phenotypes

Joubert syndrome 17|Orofaciodigital syndrome type 6|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.