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Variant (rsID / SNP)

rs140948493

DNAH5

rs140948493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,737,379. 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
5:13737379
Cytoband
5p15.2
HGVS
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
Allele change
Missense_R3813W

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 3

Public references

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