Variant (rsID / SNP)

rs189000268

rs189000268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,599,255. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAH11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:21599255
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.727A>T (p.Ile243Phe)
Allele change: Missense_I243V

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.