RGD:11597090 Rat Genome Database

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Variant: RGD:11597090 -  Homo sapiens

RGD ID: 11597090
RS ID: rs542632689
ClinVar ID: CV286746
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 203,429,253
GRCh38 2 202,564,530
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.*4584T>A
LRG_712:g.193204T>A
NG_009363.1:g.193204T>A
NC_000002.12:g.202564530T>A
More... 		01/12/2018 3 prime utr variant benign|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:XM_011511687
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000390137 CLINVAR
dbSNP (RS) rs542632689 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR