Variant (rsID / SNP)

rs121908854

rs121908854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,788,220. 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: 7:21788220
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)
Allele change: Missense_R2845G

Associated conditions / phenotypes

Primary ciliary dyskinesia 7|CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS

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.