RGD:11039992 Rat Genome Database

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Variant: RGD:11039992 -  Homo sapiens

RGD ID: 11039992
RS ID: rs374465425
ClinVar ID: CV224385
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 18,787,276
GRCh38 10 18,498,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016195.1:g.362671C>T
NC_000010.11:g.18498347C>T
NC_000010.10:g.18787276C>T
NM_001167945.2:c.250-8C>T
More... 		11/06/2020 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CACNB2
Accession:XM_011519659
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201571
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_005252591
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_006717502
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201593
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201597
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_000724
Location:INTRON

Gene Symbol:CACNB2
Accession:XM_047425725
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001167945
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201590
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201596
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201570
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001330060
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_201572
Location:INTRON

Gene Symbol:CACNB2
Accession:NM_001410882
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000208153 CLINVAR
  RCV000625136 CLINVAR
  RCV001699238 CLINVAR
  RCV001723782 CLINVAR
dbSNP (RS) rs374465425 CLINVAR
MedGen C0042510 CLINVAR
  C2678477 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CACNB2 CLINVAR
OMIM 600003 CLINVAR
  611876 CLINVAR
SNOMED CT 71908006 CLINVAR