Variant (rsID / SNP)

rs145520487

rs145520487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,187,928. 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: 5:37187928
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
Allele change: Synonymous_L1276L

Associated conditions / phenotypes

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.