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Variant (rsID / SNP)

rs370119681

CEP290

rs370119681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,474,003. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CEP290Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:88474003
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
Allele change
Nonsense_E1728X

Associated conditions / phenotypes

Meckel-Gruber syndrome|Joubert syndrome|Nephronophthisis|Leber congenital amaurosis 10|Leber congenital amaurosis|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.