Have questions? Visit https://www.reddit.com/r/SNPedia

rs62638180

From SNPedia

Orientationminus
Stabilizedminus
Make rs62638180(-;-)
Make rs62638180(-;CTTTA)
Make rs62638180(CTTTA;CTTTA)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position88071819
GeneCEP290
is asnp
is mentioned by
dbSNPrs62638180
dbSNP (classic)rs62638180
ClinGenrs62638180
ebirs62638180
HLIrs62638180
Exacrs62638180
Gnomadrs62638180
Varsomers62638180
LitVarrs62638180
Maprs62638180
PheGenIrs62638180
Biobankrs62638180
1000 genomesrs62638180
hgdprs62638180
ensemblrs62638180
geneviewrs62638180
scholarrs62638180
googlers62638180
pharmgkbrs62638180
gwascentralrs62638180
openSNPrs62638180
23andMers62638180
SNPshotrs62638180
SNPdbers62638180
MSV3drs62638180
GWAS Ctlgrs62638180
Max Magnitude0

aka c.5813_5817delCTTTA (p.Thr1938Asnfs)

Listed in ClinVar but without known significance; listed in the CEP290 database as a truncating deletion, presumably leading to a CEP290-gene related recessively inherited disease.