{{Rsnum
|rsid=193922665
|Chromosome=3
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TGFBR2
|position=30650316
|Gene_s=TGFBR2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=193922665
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=30691808
|CHROM=3
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050060000000000002100100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.30691808C>T
|CLNSRC=Correlagen
|CLNORIGIN=1
|CLNSIG=4
|CLNDBN=Loeys-Dietz syndrome
|Disease=Loeys-Dietz syndrome
|Tags=PM;OTHERKG;LSD
|CLNACC=RCV000030550.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1133:C2697932:446263001
|GENEINFO=TGFBR2:7048
|GENE_ID=7048
|GENE_NAME=TGFBR2
}}