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rs386833442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs386833442(-;-)
Make rs386833442(-;TC)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774280
GeneCSTB
is asnp
is mentioned by
dbSNPrs386833442
ebirs386833442
HLIrs386833442
Exacrs386833442
Varsomers386833442
Maprs386833442
PheGenIrs386833442
hapmaprs386833442
1000 genomesrs386833442
hgdprs386833442
ensemblrs386833442
gopubmedrs386833442
geneviewrs386833442
scholarrs386833442
googlers386833442
pharmgkbrs386833442
gwascentralrs386833442
openSNPrs386833442
23andMers386833442
23andMe allrs386833442
SNP Nexus

SNPshotrs386833442
SNPdbers386833442
MSV3drs386833442
GWAS Ctlgrs386833442
Max Magnitude0
ClinVar
Risk rs386833442(TCC,TC;TCC,TC)
Alt rs386833442(TCC,TC;TCC,TC)
Reference rs386833442(C;C)
Significance Probable-Pathogenic
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.9:g.43774280_43774281delGA
CLNSRC ClinVar
CLNACC RCV000049369.1,


[PMID 9012407OA-icon.png] Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).


[PMID 9054946] Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.


[PMID 9342192] Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.