Variant (rsID / SNP)

rs143192349

rs143192349 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ODAD3. Location: chromosome 19, position 11,541,831. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ODAD3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:11541831
Cytoband: 19p13.2
HGVS: NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln)
Allele change: Missense_R85Q

Associated conditions / phenotypes

Primary ciliary dyskinesia 30

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.