Variant (rsID / SNP)

rs727503853

rs727503853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,471,094. Clinical significance in the table: Pathogenic.

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Reference-table entries

CEP290Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:88471094
Cytoband: 12q21.32
HGVS: NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)

Associated conditions / phenotypes

Joubert syndrome 5|Joubert syndrome|Meckel-Gruber syndrome|Nephronophthisis

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.