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Variant (rsID / SNP)

rs199602894

DNAH1

rs199602894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,420,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:52420751
Cytoband
3p21.1
HGVS
NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr)
Allele change
Missense_K2962T

Associated conditions / phenotypes

Spermatogenic failure 18|Ciliary dyskinesia, primary, 37

Public references

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