Variant (rsID / SNP)
rs117852025
rs117852025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,454,728. 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
- 12:88454728
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
- Allele change
- Missense_I2134T
Associated conditions / phenotypes
Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Meckel syndrome, type 4|Joubert syndrome 5|Leber congenital amaurosis 10|Leber congenital amaurosis|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.