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Variant (rsID / SNP)

rs116938457

DNAI1

rs116938457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,489,429. 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
single nucleotide variant
Chromosome / position
9:34489429
Cytoband
9p13.3
HGVS
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
Allele change
Missense_R124C

Associated conditions / phenotypes

Primary ciliary dyskinesia|Kartagener syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.