Variant (rsID / SNP)
rs2468255
rs2468255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,505,078. Clinical significance in the table: Benign.
Reference-table entries
CEP290Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88505078
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
- Allele change
- Synonymous_S756S
Associated conditions / phenotypes
Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis|Meckel syndrome, type 4|Joubert syndrome 5|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.