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rs386833983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATCTGGGAAATGAAAC;ATCTGGGAAATGAAAC) 0 common in clinvar
(GGAAATGAAACATCTG;GGAAATGAAACATCTG) 0 common in clinvar
Make rs386833983(-;-)
Make rs386833983(-;GGAAATGAAACATCTG)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000700
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833983
ebirs386833983
HLIrs386833983
Exacrs386833983
Varsomers386833983
Maprs386833983
PheGenIrs386833983
hapmaprs386833983
1000 genomesrs386833983
hgdprs386833983
ensemblrs386833983
gopubmedrs386833983
geneviewrs386833983
scholarrs386833983
googlers386833983
pharmgkbrs386833983
gwascentralrs386833983
openSNPrs386833983
23andMers386833983
23andMe allrs386833983
SNP Nexus

SNPshotrs386833983
SNPdbers386833983
MSV3drs386833983
GWAS Ctlgrs386833983
Max Magnitude0
ClinVar
Risk rs386833983(;)
Alt rs386833983(;)
Reference rs386833983(ATCTGGGAAATGAAAC;ATCTGGGAAATGAAAC)
Significance Other
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574835_77574850del16
CLNSRC ClinVar
CLNACC RCV000049960.2,


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