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Variant (rsID / SNP)

rs141112088

DNAH11

rs141112088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,856,143. Clinical significance in the table: Conflicting interpretations of pathogenicity.

Reference-table entries

DNAH11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:21856143
Cytoband
7p15.3
HGVS
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
Allele change
Missense_T3464I

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 7

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.