RGD:8606697 Rat Genome Database

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Variant: RGD:8606697 -  Homo sapiens

RGD ID: 8606697
RS ID: rs113445294
ClinVar ID: CV53044
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDB3  LOC110121486  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 88,446,811
GRCh38 10 86,687,054
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_385:g.23491G>A
NG_008876.1:g.23491G>A
NC_000010.11:g.86687054G>A
NC_000010.10:g.88446811G>A
More... 		06/14/2016 intron variant benign|likely benign AllHighlyPenetrant; CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Cardiomyopathy, dilated, 1C, with or without LVNC; Myofibrillar myopathy, ZASP-related; none provided; Zaspopathy (type)
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LDB3
Accession:NM_001080115
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368063
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368065
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368066
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001171610
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368064
Location:INTRON

Gene Symbol:LDB3
Accession:NM_007078
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001080114
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368067
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001171611
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001080116
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368068
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036842 CLINVAR
  RCV000271123 CLINVAR
  RCV000328491 CLINVAR
  RCV000358782 CLINVAR
  RCV000380869 CLINVAR
  RCV001610319 CLINVAR
dbSNP (RS) rs113445294 CLINVAR
MedGen C1832244 CLINVAR
  C3661900 CLINVAR
  C4021133 CLINVAR
  C4721886 CLINVAR
  CN169374 CLINVAR
  CN239446 CLINVAR
NCBI Gene 110121486 CLINVAR
  LDB3 CLINVAR
OMIM 601493 CLINVAR
  605906 CLINVAR
  609452 CLINVAR