Variant (rsID / SNP)
rs11104729
rs11104729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,471,554. 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
- 12:88471554
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
- Allele change
- Missense_I1836V
Associated conditions / phenotypes
Bardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Senior-Loken syndrome 6|Nephronophthisis|Meckel-Gruber syndrome|Joubert syndrome|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.