Variant (rsID / SNP)

rs114916492

rs114916492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,882,210. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:21882210
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
Allele change: Synonymous_R3580R

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.