Variant (rsID / SNP)
rs62635288
rs62635288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,535,064. Clinical significance in the table: Pathogenic.
Reference-table entries
CEP290Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:88535064
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
- Allele change
- Missense_W7C
Associated conditions / phenotypes
Joubert syndrome 5|Leber congenital amaurosis|Nephronophthisis|Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.