RGD:28905566 Rat Genome Database

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Variant: RGD:28905566 -  Homo sapiens

RGD ID: 28905566
RS ID: rs1458669091
ClinVar ID: CV866454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LDB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 88,459,427
GRCh38 10 86,699,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080114.2:c.755+7099G>A
NM_001368066.1:c.756-6861G>A
NM_001368064.1:c.896+7099G>A
NM_001368065.1:c.896+7099G>A
More... 		01/13/2018 3 prime utr variant uncertain significance CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Cardiomyopathy, dilated, 1C, with or without LVNC; Myofibrillar myopathy, ZASP-related; Zaspopathy (type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LDB3
Accession:NM_001368063
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001080115
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001080116
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001171611
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001368068
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001368067
Location:3UTRS;EXON

Gene Symbol:LDB3
Accession:NM_001368066
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001171610
Location:INTRON

Gene Symbol:LDB3
Accession:NM_007078
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368065
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001368064
Location:INTRON

Gene Symbol:LDB3
Accession:NM_001080114
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106141 CLINVAR
  RCV001106142 CLINVAR
dbSNP (RS) rs1458669091 CLINVAR
MedGen C1832244 CLINVAR
  C4721886 CLINVAR
NCBI Gene LDB3 CLINVAR
OMIM 601493 CLINVAR
  605906 CLINVAR
  609452 CLINVAR