RGD:155800101 Rat Genome Database

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Variant: RGD:155800101 -  Homo sapiens

RGD ID: 155800101
ClinVar ID: CV1694304
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: ACTC1  GJD2-DT  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 15 35,083,463
GRCh38 15 34,791,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005159.5:c.843del
LRG_388:g.9466del
NG_007553.1:g.9466del
NC_000015.10:g.34791261del
More... 		02/01/2013 nonsense pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1694304Humandilated cardiomyopathy 1R  IAGP 8554872ClinVar Annotator: match by term: Dilated cardiomyopathy 1RClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV002466283 CLINVAR
MedGen C3150681 CLINVAR
NCBI Gene ACTC1 CLINVAR
  GJD2-DT CLINVAR
OMIM 102540 CLINVAR
  613424 CLINVAR