Variant (rsID / SNP)

rs200411544

rs200411544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,483,483. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAI1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 9:34483483
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.81+5del

Associated conditions / phenotypes

Primary ciliary dyskinesia

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.