{{Rsnum
|rsid=111854391
|Chromosome=9
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TGFBR1
|position=99138006
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TGFBR1
}}{{omim
|id=190181
|rsnum=111854391
|variant=0005
}}{{ClinVar
|rsid=111854391
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=101900288
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=TGFBR1:7046
|GENE_NAME=TGFBR1
|GENE_ID=7046
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.101900288C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=190181.0005
|CLNSIG=5
|CLNCUI=C1836635
|CLNDBN=Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome
|Disease=Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome
|CLNACC=RCV000013350.22; RCV000030540.1
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1133:C1836635:609192:60030; NBK1133:C2697932:446263001
}}{{PMID Auto
|PMID=16596670
|Title=FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
}}

{{PMID Auto
|PMID=16791849
|Title=Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
}}

{{PMID Auto
|PMID=16928994
|Title=Aneurysm syndromes caused by mutations in the TGF-beta receptor.
}}

{{PMID Auto
|PMID=18781618
|Title=Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
}}