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Variant (rsID / SNP)

rs138588942

ODAD2

rs138588942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD2. Location: chromosome 10, position 28,101,490. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ODAD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:28101490
Cytoband
10p12.1
HGVS
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)
Allele change
Missense_P595S

Associated conditions / phenotypes

Primary ciliary dyskinesia 23

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.