RGD:28889051 Rat Genome Database

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Variant: RGD:28889051 -  Homo sapiens

RGD ID: 28889051
RS ID: rs533969154
ClinVar ID: CV886890
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,193,749
GRCh38 21 43,773,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
LRG_485t1:c.*334G>A
LRG_485:g.7511G>A
NM_000100.3:c.*334G>A
NG_011545.1:g.7511G>A
More... 		01/12/2018 uncertain significance Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg); Epilepsy, progressive myoclonic type 1; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Myoclonus progressive epilepsy of Unverricht and Lundborg; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138573 CLINVAR
dbSNP (RS) rs533969154 CLINVAR
MedGen C0751785 CLINVAR
NCBI Gene CSTB CLINVAR
OMIM 254800 CLINVAR
  601145 CLINVAR
SNOMED CT 230423006 CLINVAR