Variant (rsID / SNP)
rs182369459
rs182369459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,496,626. 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
- 12:88496626
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
- Allele change
- Missense_E994K
Associated conditions / phenotypes
Joubert syndrome 5|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.