RGD:28874034 Rat Genome Database

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Variant: RGD:28874034 -  Homo sapiens

RGD ID: 28874034
RS ID: rs757669792
ClinVar ID: CV888116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLOD2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 145,787,574
GRCh38 3 146,069,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.145787574T>G
NM_182943.3:c.*930A>C
NG_009251.1:g.96709A>C
NC_000003.12:g.146069787T>G
More... 		01/13/2018 3 prime utr variant uncertain significance OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001147019 CLINVAR
dbSNP (RS) rs757669792 CLINVAR
MedGen C1836602 CLINVAR
NCBI Gene PLOD2 CLINVAR
OMIM 601865 CLINVAR
  609220 CLINVAR