{{Rsnum
|rsid=28934576
|Gene=TP53
|Chromosome=17
|position=7673802
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TP53
}}{{PMID|10645809}} Germline p53 Mutation in a Case of Li-Fraumeni Syndrome Presenting Gastric Cancer.
A germline missense mutation CGT (Arg, wild type) to CAT (His) substitution at codon 273 of the p53 gene, causing Li-Fraumeni Syndrome with a gastric cancer in a Japanese. PCR direct sequencing analysis revealed a germline missense mutation in exon 8, causing a substitution of CAT (His) for CGT (Arg).

{{omim
|desc=LI-FRAUMENI SYNDROME
|id=191170
|rsnum=28934576
|variant=0020
}}
{{ neighbor
| rsid = 28934574
| distance = 26
}}
{{ neighbor
| rsid = 28934577
| distance = 391
}}

{{ClinVar
|rsid=28934576
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=7577120
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=3
|VP=0x050260000000000016110120
|GENEINFO=TP53:7157
|GENE_NAME=TP53
|GENE_ID=7157
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.7577120C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=2
|CLNSRCID=191170.0020
|CLNSIG=255
|CLNCUI=C1835398
|CLNDBN=Li-Fraumeni syndrome 1; Thyroid carcinoma, anaplastic, somatic
|Disease=Li-Fraumeni syndrome 1; Thyroid carcinoma
|CLNACC=RCV000013163.20; RCV000013164.2
|Tags=RV;PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1311:C1835398:151623:524:428850001
|COMMON=0
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}