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Variant (rsID / SNP)

rs150556877

CPLANE1

rs150556877 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,184,968. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CPLANE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:37184968
Cytoband
5p13.2
HGVS
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
Allele change
Missense_S1468C

Associated conditions / phenotypes

Joubert syndrome 17|Orofaciodigital syndrome type 6|Joubert syndrome 17

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.