rs1576566139 Rat Genome Database

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Variant: rs1576566139 -  Homo sapiens

RGD ID: 28874027
RS ID: rs1576566139
ClinVar ID: CV888113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 145,787,335
GRCh38 3 146,069,548
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000003.12:g.146069548A>G
NC_000003.11:g.145787335A>G
NM_182943.3:c.*1169T>C
NG_009251.1:g.96948T>C
More... 		01/12/2018 3 prime utr variant uncertain significance OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV888113HumanBruck Syndrome 2  IAGP 8554872ClinVar Annotator: match by term: Bruck syndrome 2ClinVar 
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

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Database
Acc Id
Source(s)
ClinVar RCV001147016 CLINVAR
dbSNP (RS) rs1576566139 CLINVAR
MedGen C1836602 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR
  609220 CLINVAR