RGD:11590779 Rat Genome Database

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Variant: RGD:11590779 -  Homo sapiens

RGD ID: 11590779
RS ID: rs569350678
ClinVar ID: CV284097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 203,432,445
GRCh38 2 202,567,722
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.*7776C>T
LRG_712:g.196396C>T
NG_009363.1:g.196396C>T
NC_000002.12:g.202567722C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages 1-9 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR2
Accession:NM_001204
Location:3UTRS;EXON

Gene Symbol:BMPR2
Accession:XM_011511687
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000322237 CLINVAR
dbSNP (RS) rs569350678 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR