rs13079521 Rat Genome Database

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Variant: rs13079521 -  Homo sapiens

RGD ID: 11584980
RS ID: rs13079521
ClinVar ID: CV293116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 145,788,333
GRCh38 3 146,070,546
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_009251.1:g.95950T>G
NC_000003.12:g.146070546A>C
NC_000003.11:g.145788333A>C
NM_182943.3:c.*171T>G
More... 		07/31/2018 3 prime utr variant benign|likely benign none provided; OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV293116HumanBruck Syndrome 2  IAGP 8554872ClinVar Annotator: match by term: Bruck syndrome 2ClinVarPMID:25741868
Gene Symbol:PLOD2
Accession:NM_000935
Location:3UTRS;EXON

Gene Symbol:PLOD2
Accession:NM_182943
Location:3UTRS;EXON

Gene Symbol:PLOD2
Accession:XM_017006625
Location:3UTRS;EXON

Gene Symbol:PLOD2
Accession:XM_047448319
Location:3UTRS;EXON

Gene Symbol:PLOD2
Accession:XM_047448320
Location:INTRON

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV000277749 CLINVAR
  RCV001718731 CLINVAR
dbSNP (RS) rs13079521 CLINVAR
MedGen C1836602 CLINVAR
  C3661900 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR
  609220 CLINVAR