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Variant (rsID / SNP)

rs759820573

CEP290

rs759820573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,535,690. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CEP290Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:88535690
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.-41C>T
Allele change
Silent

Associated conditions / phenotypes

Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Leber congenital amaurosis 10|Joubert syndrome 5|Meckel syndrome, type 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.