Variant (rsID / SNP)

rs138940904

rs138940904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,429,022. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:52429022
Cytoband: 3p21.1
HGVS: NM_015512.5(DNAH1):c.10915G>A (p.Ala3639Thr)
Allele change: Missense_A3639T

Associated conditions / phenotypes

Spermatogenic failure 18|Ciliary dyskinesia, primary, 37

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.