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Variant (rsID / SNP)

rs368248592

DNAI1

rs368248592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,514,434. 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
9:34514434
Cytoband
9p13.3
HGVS
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
Allele change
Missense_A542S

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.