rs201715406 Rat Genome Database

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Variant: rs201715406 -  Homo sapiens

RGD ID: 13493774
RS ID: rs201715406
ClinVar ID: CV454006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPDL  LOC127401069  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 83,350,391
GRCh38 4 82,429,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_029681.1:g.5988G>C
NC_000004.12:g.82429238C>G
NC_000004.11:g.83350391C>G
NM_001207000.1:c.443+10G>C
More... 		08/27/2022 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)
CV454006Humanautosomal dominant limb-girdle muscular dystrophy type 3  IAGP 8554872ClinVar Annotator: match by term: 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 RCV001468393 CLINVAR
dbSNP (RS) rs201715406 CLINVAR
MedGen C1836765 CLINVAR
NCBI Gene HNRNPDL CLINVAR
OMIM 607137 CLINVAR
  609115 CLINVAR