Variant (rsID / SNP)
rs181121175
rs181121175 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,481,664. 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
- 12:88481664
- Cytoband
- 12q21.32
- HGVS
- NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
- Allele change
- Missense_R1363W
Associated conditions / phenotypes
Joubert syndrome 5|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.