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rs386833982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833982(-;-)
Make rs386833982(-;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000664
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833982
ebirs386833982
HLIrs386833982
Exacrs386833982
Varsomers386833982
Maprs386833982
PheGenIrs386833982
hapmaprs386833982
1000 genomesrs386833982
hgdprs386833982
ensemblrs386833982
gopubmedrs386833982
geneviewrs386833982
scholarrs386833982
googlers386833982
pharmgkbrs386833982
gwascentralrs386833982
openSNPrs386833982
23andMers386833982
23andMe allrs386833982
SNP Nexus

SNPshotrs386833982
SNPdbers386833982
MSV3drs386833982
GWAS Ctlgrs386833982
Max Magnitude0
ClinVar
Risk rs386833982(;)
Alt rs386833982(;)
Reference rs386833982(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574799delA
CLNSRC ClinVar
CLNACC RCV000049959.1,


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