Variant (rsID / SNP)
rs281865192
rs281865192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,494,960. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88494960
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.2991+1655A>G
- Allele change
- Silent
Associated conditions / phenotypes
Leber congenital amaurosis 10|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Retinitis pigmentosa|Joubert syndrome 5|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Joubert syndrome 1|Retinal dystrophy|Intellectual disability|Joubert syndrome 5|CEP290-Related Disorders|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.