Variant (rsID / SNP)

rs189493985

rs189493985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPLANE1. Location: chromosome 5, position 37,173,870. 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: 5:37173870
Cytoband: 5p13.2
HGVS: NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr)
Allele change: Missense_F2053Y

Associated conditions / phenotypes

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.