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Variant (rsID / SNP)

rs144018942

DNAAF1

rs144018942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF1. Location: chromosome 16, position 84,188,375. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAAF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:84188375
Cytoband
16q24.1
HGVS
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
Allele change
Missense_N182K

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 13

Public references

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