Variant (rsID / SNP)

rs8070256

rs8070256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH9. Location: chromosome 17, position 11,786,951. Clinical significance in the table: Benign.

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Reference-table entries

DNAH9Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:11786951
Cytoband: 17p12
HGVS: NM_001372.4(DNAH9):c.10855T>C (p.Leu3619=)
Allele change: Synonymous_L3619L

Associated conditions / phenotypes

Ciliary dyskinesia, primary, 40

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.