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rs386833965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs386833965(-;-)
Make rs386833965(-;TT)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000817
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833965
ebirs386833965
HLIrs386833965
Exacrs386833965
Varsomers386833965
Maprs386833965
PheGenIrs386833965
hapmaprs386833965
1000 genomesrs386833965
hgdprs386833965
ensemblrs386833965
gopubmedrs386833965
geneviewrs386833965
scholarrs386833965
googlers386833965
pharmgkbrs386833965
gwascentralrs386833965
openSNPrs386833965
23andMers386833965
23andMe allrs386833965
SNP Nexus

SNPshotrs386833965
SNPdbers386833965
MSV3drs386833965
GWAS Ctlgrs386833965
Max Magnitude0
ClinVar
Risk rs386833965(;)
Alt rs386833965(;)
Reference rs386833965(TT;TT)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574952_77574953delTT
CLNSRC ClinVar
CLNACC RCV000049940.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.