Variant (rsID / SNP)

rs200901816

rs200901816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,701,398. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNAH5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:13701398
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
Allele change: Nonsense_R4496X

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 3

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.