RGD:34899119 Rat Genome Database

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Variant: RGD:34899119 -  Homo sapiens

RGD ID: 34899119
RS ID: rs911305377
ClinVar ID: CV915308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 30,691,751
GRCh38 3 30,650,259
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_779t2:c.264-11C>T
NM_003242.6:c.264-11C>T
LRG_779:g.48758C>T
NG_007490.1:g.48758C>T
More...
01/14/2020 intron variant likely benign Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR2
Accession:NM_001024847
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_003242
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TGFBR2
Accession:XM_047448787
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407129
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407132
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407136
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407133
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407126
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407139
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407137
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407135
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407134
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407127
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407130
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407138
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407128
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001187815 CLINVAR
dbSNP (RS) rs911305377 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene TGFBR2 CLINVAR
OMIM 190182 CLINVAR