RGD:12845198 Rat Genome Database

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Variant: RGD:12845198 -  Homo sapiens

RGD ID: 12845198
RS ID: rs771027631
ClinVar ID: CV378563
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CSTB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 45,194,200
GRCh38 21 43,774,319
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_485:g.7060C>T
NG_011545.1:g.7060C>T
NC_000021.9:g.43774319G>A
NC_000021.8:g.45194200G>A
More... 		08/26/2021 synonymous variant likely benign|uncertain significance AllHighlyPenetrant; Familial progressive myoclonic epilepsy; Myoclonic Epilepsies, Progressive; Myoclonus epilepsy; Progressive myoclonus epilepsy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CSTB
Accession:NM_000100
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPL
TLSNYQTNKAKHDELTYF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000439375 CLINVAR
  RCV001861520 CLINVAR
dbSNP (RS) rs771027631 CLINVAR
MedGen C0751778 CLINVAR
  CN169374 CLINVAR
NCBI Gene CSTB CLINVAR
OMIM 601145 CLINVAR
SNOMED CT 267581004 CLINVAR