Variant (rsID / SNP)
rs386834149
rs386834149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,513,962. Clinical significance in the table: Pathogenic.
Reference-table entries
CEP290Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 12:88513962
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.1451del (p.Lys484fs)
Associated conditions / phenotypes
Meckel syndrome, type 4|Joubert syndrome|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.