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Variant (rsID / SNP)

rs542708170

DNAH5

rs542708170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,864,741. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAH5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:13864741
Cytoband
5p15.2
HGVS
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
Allele change
Missense_R1454Q

Associated conditions / phenotypes

Primary ciliary dyskinesia 3|Primary ciliary dyskinesia

Public references

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