RGD:28895371 Rat Genome Database

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Variant: RGD:28895371 -  Homo sapiens

RGD ID: 28895371
RS ID: rs548771446
ClinVar ID: CV883409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 203,429,796
GRCh38 2 202,565,073
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_712t1:c.*5127C>T
LRG_712:g.193747C>T
NG_009363.1:g.193747C>T
NC_000002.12:g.202565073C>T
More... 		01/12/2018 3 prime utr variant benign
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 RCV001140847 CLINVAR
dbSNP (RS) rs548771446 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR