RGD:11547482 Rat Genome Database

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Variant: RGD:11547482 -  Homo sapiens

RGD ID: 11547482
RS ID: rs79284104
ClinVar ID: CV257446
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065410  PLCB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 8,703,083
GRCh38 20 8,722,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028168.1:g.594788C>T
NC_000020.11:g.8722436C>T
NC_000020.10:g.8703083C>T
NM_015192.4:c.1581+15C>T
More... 		12/01/2020 intron variant benign|likely benign AllHighlyPenetrant; Early infantile epileptic encephalopathy 12; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLCB1
Accession:NM_015192
Location:INTRON

Gene Symbol:PLCB1
Accession:NM_182734
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247816 CLINVAR
  RCV000344480 CLINVAR
  RCV001636799 CLINVAR
  RCV002058257 CLINVAR
dbSNP (RS) rs79284104 CLINVAR
MedGen C3150988 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239237 CLINVAR
NCBI Gene LOC130065410 CLINVAR
  PLCB1 CLINVAR
OMIM 607120 CLINVAR
  613722 CLINVAR