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rs386833969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 neuronal ceroid lipofuscinosis, CLN-5 related allele
(-;AT) 3 carrier for neuronal ceroid lipofuscinosis CLN-5 related allele
(AT;AT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position77000920
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833969
ebirs386833969
HLIrs386833969
Exacrs386833969
Varsomers386833969
Maprs386833969
PheGenIrs386833969
hapmaprs386833969
1000 genomesrs386833969
hgdprs386833969
ensemblrs386833969
gopubmedrs386833969
geneviewrs386833969
scholarrs386833969
googlers386833969
pharmgkbrs386833969
gwascentralrs386833969
openSNPrs386833969
23andMers386833969
23andMe allrs386833969
SNP Nexus

SNPshotrs386833969
SNPdbers386833969
MSV3drs386833969
GWAS Ctlgrs386833969
Max Magnitude5
ClinVar
Risk rs386833969(;)
Alt rs386833969(;)
Reference rs386833969(AT;AT)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77575055_77575056delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002673.5,


[PMID 9662406] CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.


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