RGD:28899186 Rat Genome Database

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Variant: RGD:28899186 -  Homo sapiens

RGD ID: 28899186
RS ID: rs1377242364
ClinVar ID: CV883360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMPR2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 203,241,773
GRCh38 2 202,377,050
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.5724G>T
NC_000002.12:g.202377050G>T
NC_000002.11:g.203241773G>T
NM_001204.6:c.-425G>T
More... 		01/15/2018 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 RCV001142261 CLINVAR
dbSNP (RS) rs1377242364 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene BMPR2 CLINVAR
OMIM 178600 CLINVAR
  600799 CLINVAR