rs941602069 Rat Genome Database

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Variant: rs941602069 -  Homo sapiens

RGD ID: 151824259
RS ID: rs941602069
ClinVar ID: CV1452911
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPDL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 83,349,426
GRCh38 4 82,428,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001207000.1:c.612+5G>A
NM_031372.4:c.612+5G>A
NG_029681.1:g.6953G>A
NC_000004.12:g.82428273C>T
More... 		08/23/2022 intron variant uncertain significance 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)
CV1452911Humanautosomal dominant limb-girdle muscular dystrophy type 3  IAGP 8554872ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1GClinVarPMID:17576681|PMID:28492532|PMID:9536098
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:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002030192 CLINVAR
dbSNP (RS) rs941602069 CLINVAR
MedGen C1836765 CLINVAR
NCBI Gene HNRNPDL CLINVAR
OMIM 607137 CLINVAR
  609115 CLINVAR