Variant (rsID / SNP)

rs72736758

rs72736758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,196,028. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CPLANE1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:37196028
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)
Allele change: Missense_G1248D

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.