Variant (rsID / SNP)

rs145619075

rs145619075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD2. Location: chromosome 10, position 28,224,092. 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: 10:28224092
Cytoband: 10p12.1
HGVS: NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
Allele change: Missense_G306V

Associated conditions / phenotypes

Primary ciliary dyskinesia 23

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.