Variant (rsID / SNP)
rs6511
rs6511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAG1. Location: chromosome 8, position 101,252,680. Clinical significance in the table: Benign.
Reference-table entries
SPAG1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:101252680
- Cytoband
- 8q22.2
- HGVS
- NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr)
- Allele change
- Missense_M777T
Associated conditions / phenotypes
Primary ciliary dyskinesia 28
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.