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Variant (rsID / SNP)

rs147470752

DNAI2

rs147470752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,281,192. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAI2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:72281192
Cytoband
17q25.1
HGVS
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
Allele change
Missense_R66L

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 9

Public references

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