RGD:21404739 Rat Genome Database

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Variant: RGD:21404739 -  Homo sapiens

RGD ID: 21404739
RS ID: rs1574488501
ClinVar ID: CV801241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 203,383,775
GRCh38 2 202,519,052
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_712t1:c.852_852+1insA
NM_001204.7:c.852_852+1insA
NG_009363.1:g.147726_147727insA
NC_000002.12:g.202519052_202519053insA
More... 		splice donor variant pathogenic
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:32581362  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001003695 CLINVAR
dbSNP (RS) rs1574488501 CLINVAR
MedGen C2973725 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 600799 CLINVAR
SNOMED CT 11399002 CLINVAR