Variant (rsID / SNP)

rs200669099

rs200669099 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,514,466. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNAI1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:34514466
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
Allele change: Nonsense_W552X

Associated conditions / phenotypes

Primary ciliary dyskinesia|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.