Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs184143186

CEP290

rs184143186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,481,649. 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
12:88481649
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
Allele change
Missense_D1368N

Associated conditions / phenotypes

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

Public references

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