Variant (rsID / SNP)

rs747835249

rs747835249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,508,195. Clinical significance in the table: Pathogenic.

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Reference-table entries

CEP290Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:88508195
Cytoband: 12q21.32
HGVS: NM_025114.4(CEP290):c.2052+1_2052+2del

Associated conditions / phenotypes

Retinal dystrophy|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis|Leber congenital amaurosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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