RGD:11605029 Rat Genome Database

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Variant: RGD:11605029 -  Homo sapiens

RGD ID: 11605029
RS ID: rs563433922
ClinVar ID: CV313865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 101,915,291
GRCh38 9 99,153,009
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007461.1:g.52880A>G
NC_000009.12:g.99153009A>G
NC_000009.11:g.101915291A>G
NM_004612.2:c.*3704A>G
More... 		06/14/2016 3 prime utr variant likely benign infancy Aortic aneurysm syndrome, Loeys-Dietz type; Aortic aneurysm, familial thoracic 5; Furlong syndrome; Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome type 2A; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001407432
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407424
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407416
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407427
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407428
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407429
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407435
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001130916
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407419
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407425
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407437
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:XM_011518948
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407422
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407436
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407423
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407434
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407433
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407418
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407420
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_004612
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001306210
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407426
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407417
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407438
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407430
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NR_176362
Location:EXON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176360
Location:EXON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176363
Location:EXON;NON-CODING

Gene Symbol:TGFBR1
Accession:NR_176361
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000315362 CLINVAR
  RCV000367680 CLINVAR
  RCV000407065 CLINVAR
dbSNP (RS) rs563433922 CLINVAR
MedGen C2697932 CLINVAR
  C4551955 CLINVAR
  C4707243 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR
  609192 CLINVAR
SNOMED CT 446263001 CLINVAR