Variant (rsID / SNP)

rs149170427

rs149170427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,198,899. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CPLANE1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:37198899
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
Allele change: Missense_R1193C

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.