Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs191613017

CEP290

rs191613017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,454,677. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CEP290Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:88454677
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
Allele change
Missense_L2151S

Associated conditions / phenotypes

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

Public references

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