rs771764838 Rat Genome Database

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Variant: rs771764838 -  Homo sapiens

RGD ID: 152169473
RS ID: rs771764838
ClinVar ID: CV1632238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPDL  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 83,348,462
GRCh38 4 82,427,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001207000.1:c.907-5T>A
NM_031372.4:c.907-5T>A
NG_029681.1:g.7917T>A
NC_000004.12:g.82427309A>T
More... 		12/27/2023 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)
CV1632238Humanautosomal 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 RCV002142800 CLINVAR
dbSNP (RS) rs771764838 CLINVAR
MedGen C1836765 CLINVAR
NCBI Gene HNRNPDL CLINVAR
OMIM 607137 CLINVAR
  609115 CLINVAR