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Variant (rsID / SNP)

rs137852834

CEP290

rs137852834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,477,713. Clinical significance in the table: Pathogenic.

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Reference-table entries

CEP290Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:88477713
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
Allele change
Nonsense_K1575X

Associated conditions / phenotypes

Leber congenital amaurosis 10|Joubert syndrome 5|Blindness|Molar tooth sign on MRI|Nystagmus|Central hypotonia|Joubert syndrome 5|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Meckel syndrome, type 4|Nephronophthisis|Joubert syndrome|Meckel-Gruber syndrome|Retinal dystrophy|Senior-Loken syndrome 6|Leber congenital amaurosis

Public references

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