Variant (rsID / SNP)
rs79689614
rs79689614 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH1. Location: chromosome 3, position 52,420,199. Clinical significance in the table: Likely benign.
Reference-table entries
DNAH1Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:52420199
- Cytoband
- 3p21.1
- HGVS
- NM_015512.5(DNAH1):c.8649G>C (p.Glu2883Asp)
- Allele change
- Missense_E2883D
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.