Variant (rsID / SNP)

rs79377186

rs79377186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,182,969. Clinical significance in the table: Benign.

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Reference-table entries

CPLANE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:37182969
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly)
Allele change: Missense_S1772G

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.