Variant (rsID / SNP)

rs145742175

rs145742175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD2. Location: chromosome 10, position 28,233,225. Clinical significance in the table: Pathogenic.

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Reference-table entries

ODAD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:28233225
Cytoband: 10p12.1
HGVS: NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)
Allele change: Missense_E82K

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.