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Variant (rsID / SNP)

rs370128838

DNAAF1

rs370128838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF1. Location: chromosome 16, position 84,188,336. 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
16:84188336
Cytoband
16q24.1
HGVS
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
Allele change
Synonymous_L169L

Associated conditions / phenotypes

Primary ciliary dyskinesia 13|Primary ciliary dyskinesia

Public references

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