RGD:11588091 Rat Genome Database

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Variant: RGD:11588091 -  Homo sapiens

RGD ID: 11588091
RS ID: rs530181389
ClinVar ID: CV284758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 203,241,271
GRCh38 2 202,376,548
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_712t1:c.-927A>G
LRG_712:g.5222A>G
NG_009363.1:g.5222A>G
NC_000002.12:g.202376548A>G
More... 		07/07/2018 5 prime utr variant benign|likely benign all ages 1-9 / 1 000 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR2
Accession:NM_001204
Location:5UTRS;EXON

Gene Symbol:BMPR2
Accession:XM_011511687
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300383 CLINVAR
  RCV001590977 CLINVAR
dbSNP (RS) rs530181389 CLINVAR
MedGen C3661900 CLINVAR
  C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR