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rs386834132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(TC;TC) 0 common in clinvar
Make rs386834132(-;-)
Make rs386834132(-;CT)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780268
GeneCLN8
is asnp
is mentioned by
dbSNPrs386834132
ebirs386834132
HLIrs386834132
Exacrs386834132
Varsomers386834132
Maprs386834132
PheGenIrs386834132
hapmaprs386834132
1000 genomesrs386834132
hgdprs386834132
ensemblrs386834132
gopubmedrs386834132
geneviewrs386834132
scholarrs386834132
googlers386834132
pharmgkbrs386834132
gwascentralrs386834132
openSNPrs386834132
23andMers386834132
23andMe allrs386834132
SNP Nexus

SNPshotrs386834132
SNPdbers386834132
MSV3drs386834132
GWAS Ctlgrs386834132
Max Magnitude0
ClinVar
Risk rs386834132(;)
Alt rs386834132(;)
Reference rs386834132(TC;TC)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728434_1728435delCT
CLNSRC ClinVar
CLNACC RCV000050126.2, RCV000197221.1,


[PMID 22220808] Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.