{{Rsnum
|rsid=80338963
|Chromosome=18
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMAD4
|position=51065548
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SMAD4
}}{{omim
|id=600993
|rsnum=80338963
|variant=0008
}}{{ClinVar
|rsid=80338963
|Reversed=0
|FwdREF=C
|FwdALT=A,G,T
|REF=C
|ALT=A,G,T
|RSPOS=48591918
|CHROM=18
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110104
|GENEINFO=SMAD4:4089
|GENE_NAME=SMAD4
|GENE_ID=4089
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000018.9:g.48591918C>A; NC_000018.9:g.48591918C>G; NC_000018.9:g.48591918C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=NBK1469; 600993.0008; VAR_019572
|CLNSIG=5
|CLNCUI=C0345893; C1832942; C0345893
|CLNDBN=Juvenile polyposis syndrome; JP and JP/HHT; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JP, JP/HHT, and HHT; not provided
|Disease=Juvenile polyposis syndrome; JP and JP/HHT; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JP; not provided
|CLNACC=RCV000021702.1; RCV000021710.1; RCV000009071.1; RCV000009072.1; RCV000021711.1; RCV000059732.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM;NOV
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1469:C0345893:174900:9273005; NBK1351:C1832942:175050:2929
}}{{PMID|8898652}} Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

{{PMID|9285566}} Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas.

{{PMID|9582123}} Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

{{PMID|9811934}} Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.{{PMID Auto
|PMID=15235019
|Title=The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|OA=1
}}

{{PMID Auto
|PMID=15031030
|Title=A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
}}