RGD:28883888 Rat Genome Database

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Variant: RGD:28883888 -  Homo sapiens

RGD ID: 28883888
RS ID: rs1827918720
ClinVar ID: CV902643
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 101,911,834
GRCh38 9 99,149,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001130916.3:c.*247T>C
NM_001306210.2:c.*247T>C
NM_004612.4:c.*247T>C
NG_007461.1:g.49423T>C
More... 		01/13/2018 3 prime utr variant uncertain significance Aortic aneurysm syndrome, Loeys-Dietz type; Aortic aneurysm, familial thoracic 5; Furlong syndrome; Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome type 2A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001407420
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407432
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168339 CLINVAR
dbSNP (RS) rs1827918720 CLINVAR
MedGen C4551955 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR
  609192 CLINVAR