rs369035855 Rat Genome Database

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Variant: rs369035855 -  Homo sapiens

RGD ID: 14708731
RS ID: rs369035855
ClinVar ID: CV651280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPDL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 83,348,337
GRCh38 4 82,427,184
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_031372.3:c.1021+6A>G
NM_001207000.1:c.1021+6A>G
NG_029681.1:g.8042A>G
NC_000004.12:g.82427184T>C
More... 		12/06/2023 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)
CV651280Humanautosomal 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 RCV000810171 CLINVAR
dbSNP (RS) rs369035855 CLINVAR
MedGen C1836765 CLINVAR
NCBI Gene HNRNPDL CLINVAR
OMIM 607137 CLINVAR
  609115 CLINVAR