Variant (rsID / SNP)

rs587777047

rs587777047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD2. Location: chromosome 10, position 28,151,382. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ODAD2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:28151382
Cytoband: 10p12.1
HGVS: NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)
Allele change: Missense_L452W

Associated conditions / phenotypes

Primary ciliary dyskinesia 23|Kartagener syndrome

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.