Variant (rsID / SNP)
rs2287371
rs2287371 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP41. Location: chromosome 7, position 130,080,812. Clinical significance in the table: Benign.
Reference-table entries
CEP41Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:130080812
- Cytoband
- 7q32.2
- HGVS
- NM_018718.3(CEP41):c.-5A>C
- Allele change
- Silent
Associated conditions / phenotypes
Joubert syndrome 15
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.