RGD:28886923 Rat Genome Database

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Variant: RGD:28886923 -  Homo sapiens

RGD ID: 28886923
RS ID: rs1688752812
ClinVar ID: CV883414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 203,430,659
GRCh38 2 202,565,936
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_712t1:c.*5990A>C
NM_001204.7:c.*5990A>C
NC_000002.11:g.203430659A>C
NM_001204.6:c.*5990A>C
More... 		01/13/2018 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR2
Accession:XM_011511687
Location:3UTRS;EXON

Gene Symbol:BMPR2
Accession:NM_001204
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001137952 CLINVAR
dbSNP (RS) rs1688752812 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR