RGD:11586263 Rat Genome Database

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Variant: RGD:11586263 -  Homo sapiens

RGD ID: 11586263
RS ID: rs11466533
ClinVar ID: CV289927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 30,734,612
GRCh38 3 30,693,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_779t1:c.*1521G>A
LRG_779:g.91619G>A
NG_007490.1:g.91619G>A
NC_000003.12:g.30693120G>A
More... 		06/14/2016 3 prime utr variant benign all ages 1-5 / 10 000 Aortic aneurysm, familial thoracic 3; Loeys-Dietz syndrome type 1B; Loeys-Dietz syndrome type 2B; Marfan like connective tissue disorder; Marfan Syndrome type 2; Marfan syndrome, type 2 (formerly); MARFAN SYNDROME, TYPE II; MFS 2; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR2
Accession:NM_001407134
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:XM_047448787
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407126
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407135
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407138
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407139
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407128
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407133
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407137
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407127
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407130
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_003242
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407132
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407129
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001024847
Location:3UTRS;EXON

Gene Symbol:TGFBR2
Accession:NM_001407136
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286568 CLINVAR
  RCV000334675 CLINVAR
  RCV000406495 CLINVAR
dbSNP (RS) rs11466533 CLINVAR
MedGen C2674574 CLINVAR
  C2697932 CLINVAR
  C4707243 CLINVAR
NCBI Gene TGFBR2 CLINVAR
OMIM 190182 CLINVAR
  610168 CLINVAR
SNOMED CT 446263001 CLINVAR