Variant (rsID / SNP)

rs139339343

rs139339343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,775,266. 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: 7:21775266
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.7449C>T (p.Leu2483=)
Allele change: Synonymous_L2483L

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.