Variant (rsID / SNP)

rs730882217

rs730882217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,154,064. Clinical significance in the table: Pathogenic.

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Reference-table entries

CPLANE1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 5:37154064
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)

Associated conditions / phenotypes

Typical Joubert syndrome MRI findings|Global developmental delay|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.