Variant (rsID / SNP)

rs17089782

rs17089782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIBF1. Location: chromosome 13, position 73,409,497. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIBF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 13:73409497
Cytoband: 13q22.1
HGVS: NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
Allele change: Missense_R405Q

Associated conditions / phenotypes

Joubert syndrome|Joubert syndrome 33

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.