Variant (rsID / SNP)
rs138320093
rs138320093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,397,098. Clinical significance in the table: Benign.
Reference-table entries
DNAH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52397098
- Cytoband
- 3p21.1
- HGVS
- NM_015512.5(DNAH1):c.5182A>T (p.Ser1728Cys)
- Allele change
- Missense_S1728C
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.