RGD:127293569 Rat Genome Database

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Variant: RGD:127293569 -  Homo sapiens

RGD ID: 127293569
RS ID: rs372279211
ClinVar ID: CV1112126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 203,384,804
GRCh38 2 202,520,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009363.1:g.148755A>T
NC_000002.12:g.202520081A>T
NC_000002.11:g.203384804A>T
NM_001204.7:c.853-6A>T
More... 		08/25/2020 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:BMPR2
Accession:NM_001204
Location:INTRON

Gene Symbol:BMPR2
Accession:XM_011511687
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001476621 CLINVAR
dbSNP (RS) rs372279211 CLINVAR
MedGen C0152171 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 600799 CLINVAR