RGD:8607499 Rat Genome Database

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Variant: RGD:8607499 -  Homo sapiens

RGD ID: 8607499
RS ID: rs11466512
ClinVar ID: CV53825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 30,713,126
GRCh38 3 30,671,634
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
NG_007490.1:g.70133T>A
NC_000003.12:g.30671634T>A
NC_000003.11:g.30713126T>A
c.455-4T>A
More... 		09/23/2022 intron|intron variant benign all ages 1-5 / 10 000 AllHighlyPenetrant; Aneurysm of thoracic aorta; Aortic aneurysm, familial thoracic 3; Loeys-Dietz syndrome type 1B; Loeys-Dietz syndrome type 2B; Marfan like connective tissue disorder; Marfan syndrome type 1; Marfan Syndrome type 2; Marfan syndrome, classic; Marfan syndrome, type 2 (formerly); MARFAN SYNDROME, TYPE I; MARFAN SYNDROME, TYPE II; Marfan's syndrome; MFS 2; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TGFBR2
Accession:NM_001407133
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407135
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407127
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407138
Location:INTRON

Gene Symbol:TGFBR2
Accession:XM_047448787
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407132
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407126
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001024847
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407134
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407129
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407139
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_003242
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407130
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407137
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407128
Location:INTRON

Gene Symbol:TGFBR2
Accession:NM_001407136
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037737 CLINVAR
  RCV000250660 CLINVAR
  RCV000322117 CLINVAR
  RCV000374376 CLINVAR
  RCV000617139 CLINVAR
  RCV001811264 CLINVAR
  RCV003148642 CLINVAR
dbSNP (RS) rs11466512 CLINVAR
MedGen C0024796 CLINVAR
  C0162872 CLINVAR
  C2674574 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene TGFBR2 CLINVAR
OMIM 154700 CLINVAR
  190182 CLINVAR
  610168 CLINVAR
SNOMED CT 19346006 CLINVAR
  433068007 CLINVAR