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Variant (rsID / SNP)

rs771454167

CEP290

rs771454167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,456,549. 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
Deletion
Chromosome / position
12:88456549
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.6277del (p.Val2093fs)

Associated conditions / phenotypes

Joubert syndrome 5|Bardet-Biedl syndrome 14|Senior-Loken syndrome 6|Meckel-Gruber syndrome|Nephronophthisis|Joubert syndrome|Leber congenital amaurosis 10|Leber congenital amaurosis

Public references

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