RGD:405051440 Rat Genome Database

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Variant: RGD:405051440 -  Homo sapiens

RGD ID: 405051440
ClinVar ID: CV3150985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPDL  LOC127401069  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 83,350,387
GRCh38 4 82,429,234
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001207000.1:c.443+14C>G
NM_031372.4:c.443+14C>G
NG_103032.1:g.209G>C
NG_029681.1:g.5992C>G
More... 		06/20/2023 intron variant likely benign Limb-girdle muscular dystrophy, type 1G; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3150985Humanautosomal dominant limb-girdle muscular dystrophy type 3  IAGP 8554872ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1GClinVarPMID:28492532
Gene Symbol:HNRNPDL
Accession:NM_001207000
Location:INTRON

Gene Symbol:HNRNPDL
Accession:NM_031372
Location:INTRON

Gene Symbol:HNRNPDL
Accession:NR_003249
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003849589 CLINVAR
MedGen C1836765 CLINVAR
NCBI Gene HNRNPDL CLINVAR
OMIM 607137 CLINVAR
  609115 CLINVAR