{{Rsnum
|rsid=121918456
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PTPN11
|position=112473023
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PTPN11
}}{{omim
|id=176876
|rsnum=121918456
|variant=0005
}}{{ClinVar
|rsid=121918456
|Reversed=0
|FwdREF=A
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=112910827
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=PTPN11:5781
|GENE_NAME=PTPN11
|GENE_ID=5781
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000012.11:g.112910827A>C; NC_000012.11:g.112910827A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1383; 176876.0005
|CLNSIG=5
|CLNCUI=C0175704
|CLNDBN=LEOPARD syndrome 1; LEOPARD syndrome; Noonan's syndrome; Rasopathy; not provided
|Disease=LEOPARD syndrome 1; LEOPARD syndrome; Noonan's syndrome; Rasopathy; not provided
|CLNACC=RCV000055889.1; RCV000014256.22; RCV000030620.1; RCV000033504.3; RCV000055890.1; RCV000077859.1
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen; GeneReviews:MedGen:OMIM:SNOMED_CT; MedGen
|CLNDSDBID=NBK1383:CN074218:151100:500; NBK1383:C0175704; NBK1124:C0028326:163950:205824006; CN166718
}}