Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs184323010

CEP290

rs184323010 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CEP290. Location: chromosome 12, position 88,454,737. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CEP290Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
12:88454737
Cytoband
12q21.32
HGVS
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
Allele change
Missense_E2131G

Associated conditions / phenotypes

Joubert syndrome|Nephronophthisis|Meckel-Gruber syndrome|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Joubert syndrome 5|Leber congenital amaurosis 10|Meckel syndrome, type 4|Leber congenital amaurosis

Public references

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