RGD:11595844 Rat Genome Database

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Variant: RGD:11595844 -  Homo sapiens

RGD ID: 11595844
RS ID: rs773296242
ClinVar ID: CV284093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 203,432,174
GRCh38 2 202,567,451
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.*7505T>G
LRG_712:g.196125T>G
NG_009363.1:g.196125T>G
NC_000002.12:g.202567451T>G
More... 		06/14/2016 3 prime utr variant uncertain significance 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 RCV000375580 CLINVAR
dbSNP (RS) rs773296242 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR