Variant (rsID / SNP)

rs201943194

rs201943194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,750,214. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNAH11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:21750214
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
Allele change: Nonsense_R2243X

Associated conditions / phenotypes

Primary ciliary dyskinesia 7|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.