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rs386833973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833973(-;-)
Make rs386833973(-;A)
Make rs386833973(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995942
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833973
ebirs386833973
HLIrs386833973
Exacrs386833973
Varsomers386833973
Maprs386833973
PheGenIrs386833973
hapmaprs386833973
1000 genomesrs386833973
hgdprs386833973
ensemblrs386833973
gopubmedrs386833973
geneviewrs386833973
scholarrs386833973
googlers386833973
pharmgkbrs386833973
gwascentralrs386833973
openSNPrs386833973
23andMers386833973
23andMe allrs386833973
SNP Nexus

SNPshotrs386833973
SNPdbers386833973
MSV3drs386833973
GWAS Ctlgrs386833973
Max Magnitude0
ClinVar
Risk rs386833973(A;A)
Alt rs386833973(A;A)
Reference rs386833973(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77570077_77570078insA
CLNSRC ClinVar
CLNACC RCV000049950.1,


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