{{Rsnum
|rsid=398122885
|Chromosome=1
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=TGFB2
|position=218434381
|Gene_s=TGFB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000030735.25
|CLNALLE=1
|CLNDBN=Loeys-Dietz syndrome, type 4
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1133:CN143719:614816
|CLNHGVS=NC_000001.11:g.218434381C>A
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_001135599.2:c.771C>A; 190220.0004
|Disease=Loeys-Dietz syndrome
|FwdALT=A
|FwdREF=C
|GENEINFO=TGFB2:7042
|GENE_ID=7042
|GENE_NAME=TGFB2
|REF=C
|RSPOS=218434381
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;NSN;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000605000002110100
|WGT=1
|dbSNPBuildID=138
|rsid=398122885
|CLNORIGIN=1
}}