Variant (rsID / SNP)
rs77778467
rs77778467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,452,656. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CEP290Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88452656
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
- Allele change
- Missense_S2263G
Associated conditions / phenotypes
Leber congenital amaurosis 10|Joubert syndrome 1|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Meckel syndrome, type 4|Joubert syndrome 5|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.