Variant (rsID / SNP)
rs45502896
rs45502896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,523,494. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CEP290Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88523494
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
- Allele change
- Missense_E277Q
Associated conditions / phenotypes
Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.