RGD:11627910 Rat Genome Database

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Variant: RGD:11627910 -  Homo sapiens

RGD ID: 11627910
RS ID: rs6385
ClinVar ID: CV350782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSTB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,194,009
GRCh38 21 43,774,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_485t1:c.*74T>C
LRG_485:g.7251T>C
NG_011545.1:g.7251T>C
NC_000021.9:g.43774128A>G
More... 		07/07/2018 3 prime utr variant benign|likely benign adolescent 1-9 / 1 000 000 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; none provided; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CSTB
Accession:NM_000100
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000291858 CLINVAR
  RCV001672607 CLINVAR
dbSNP (RS) rs6385 CLINVAR
MedGen C0751785 CLINVAR
  C3661900 CLINVAR
NCBI Gene CSTB CLINVAR
OMIM 254800 CLINVAR
  601145 CLINVAR
SNOMED CT 230423006 CLINVAR