Variant (rsID / SNP)

rs116198390

rs116198390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,122,533. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CPLANE1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:37122533
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly)
Allele change: Missense_R2952G

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.