{{Rsnum
|rsid=398122861
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=PTPN11
|position=112455948
|Gene_s=PTPN11
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=12
|CLNACC=RCV000024260.16
|CLNALLE=1
|CLNDBN=Metachondromatosis
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0410530:156250:2499:205481009
|CLNHGVS=NC_000012.11:g.112893752A>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=176876.0033
|Disease=Metachondromatosis
|FwdALT=C
|FwdREF=A
|GENEINFO=PTPN11:5781
|GENE_ID=5781
|GENE_NAME=PTPN11
|REF=A
|RSPOS=112893752
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=138
|rsid=398122861
}}