Variant (rsID / SNP)

rs2003417

rs2003417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,778,429. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAH11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:21778429
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
Allele change: Missense_Y2586H

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.