Variant (rsID / SNP)

rs147718607

rs147718607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD1. Location: chromosome 19, position 48,807,210. Clinical significance in the table: Pathogenic.

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Reference-table entries

ODAD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:48807210
Cytoband: 19q13.33
HGVS: NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
Allele change: Missense_A285T

Associated conditions / phenotypes

Primary ciliary dyskinesia 20|Kartagener syndrome|Primary ciliary dyskinesia

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.