RGD:28899192 Rat Genome Database

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Variant: RGD:28899192 -  Homo sapiens

RGD ID: 28899192
RS ID: rs1690166025
ClinVar ID: CV883362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 203,241,885
GRCh38 2 202,377,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.202377162G>A
NM_001204.6:c.-313G>A
NC_000002.11:g.203241885G>A
LRG_712:g.5836G>A
More... 		01/12/2018 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMPR2
Accession:XM_011511687
Location:5UTRS;EXON

Gene Symbol:BMPR2
Accession:NM_001204
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001142263 CLINVAR
dbSNP (RS) rs1690166025 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR