Variant (rsID / SNP)

rs181884470

rs181884470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,829,654. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:13829654
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
Allele change: Missense_L2137I

Associated conditions / phenotypes

Primary ciliary dyskinesia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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