Variant (rsID / SNP)
rs78877829
rs78877829 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC65. Location: chromosome 12, position 49,312,540. Clinical significance in the table: Benign.
Reference-table entries
CCDC65Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:49312540
- Cytoband
- 12q13.12
- HGVS
- NM_033124.5(CCDC65):c.880C>T (p.Arg294Cys)
- Allele change
- Missense_R151C
Associated conditions / phenotypes
Primary ciliary dyskinesia 27
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.