RGD:402492979 Rat Genome Database

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Variant: RGD:402492979 -  Homo sapiens

RGD ID: 402492979
ClinVar ID: CV3002232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 101,867,587
GRCh38 9 99,105,305
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001407424.1:c.-111+1199G>A
NM_001407418.1:c.-111+1564G>A
NM_001407423.1:c.-111+1564G>A
NM_001407419.1:c.-111+180G>A
More... 		06/05/2023 intron variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001407418
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407423
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407424
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407425
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407434
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407432
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407419
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407433
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407422
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407426
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407428
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407420
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_001407429
Location:5UTRS;INTRON

Gene Symbol:TGFBR1
Accession:NM_004612
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001130916
Location:INTRON

Gene Symbol:TGFBR1
Accession:XM_011518948
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001306210
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407416
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407417
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407435
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407436
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407438
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407437
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407430
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407427
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003644039 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR