RGD:11598849 Rat Genome Database

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Variant: RGD:11598849 -  Homo sapiens

RGD ID: 11598849
RS ID: rs34972863
ClinVar ID: CV323578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDB3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 88,428,394
GRCh38 10 86,668,637
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_385t2:c.-55C>A
NM_001080116.1:c.-55C>A
LRG_385:g.5074C>A
NG_008876.1:g.5074C>A
More... 		01/01/2023 2kb upstream variant|5 prime utr variant benign|likely benign|uncertain significance 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_001080116
Location:5UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001080115
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368066
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_007078
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001080114
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368068
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368065
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001171610
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001171611
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368067
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368064
Location:5UTRS;INTRON

Gene Symbol:LDB3
Accession:NM_001368063
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000260607 CLINVAR
  RCV000322842 CLINVAR
  RCV000353070 CLINVAR
  RCV000379799 CLINVAR
  RCV002262952 CLINVAR
dbSNP (RS) rs34972863 CLINVAR
MedGen C3661900 CLINVAR
  C4021133 CLINVAR
  C4721886 CLINVAR
  CN239310 CLINVAR
  CN239446 CLINVAR
NCBI Gene LDB3 CLINVAR
OMIM 605906 CLINVAR
  609452 CLINVAR