Variant (rsID / SNP)

rs181919231

rs181919231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,386,622. 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: 3:52386622
Cytoband: 3p21.1
HGVS: NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr)
Allele change: Missense_A976T

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.