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rs386833964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(TC;TC) 0 common in clinvar
Make rs386833964(-;-)
Make rs386833964(-;CT)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000816
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833964
ebirs386833964
HLIrs386833964
Exacrs386833964
Varsomers386833964
Maprs386833964
PheGenIrs386833964
hapmaprs386833964
1000 genomesrs386833964
hgdprs386833964
ensemblrs386833964
gopubmedrs386833964
geneviewrs386833964
scholarrs386833964
googlers386833964
pharmgkbrs386833964
gwascentralrs386833964
openSNPrs386833964
23andMers386833964
23andMe allrs386833964
SNP Nexus

SNPshotrs386833964
SNPdbers386833964
MSV3drs386833964
GWAS Ctlgrs386833964
Max Magnitude0
ClinVar
Risk rs386833964(;)
Alt rs386833964(;)
Reference rs386833964(TC;TC)
Significance Other
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574951_77574952delCT
CLNSRC ClinVar
CLNACC RCV000049939.2,


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