Variant (rsID / SNP)

rs143443167

rs143443167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,427,005. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:52427005
Cytoband: 3p21.1
HGVS: NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)
Allele change: Missense_I3480V

Associated conditions / phenotypes

Spermatogenic failure 18|Ciliary dyskinesia, primary, 37|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.