{{Rsnum
|rsid=36053993
|Gene=MUTYH
|Chromosome=1
|position=45331556
|Orientation=plus
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MUTYH
}}[[rs36053993]], also known as Gly396Asp, is one of the two most common pathogenic mutations in the [[MUTYH]] gene. The risk allele is [[rs36053993]](A), as oriented in accordance with dbSNP. (Mutation nomenclature according to Genbank accession number NM_001128425.1 c.1187G>A, p.Gly396Asp; numbering differences can lead to alternative designations including Gly368Asp, Gly369Asp, Gly382Asp, or Gly393Asp.) 

People with two copies of a single mutation in the MUTYH gene are at higher risk of developing multiple adenomatous polyps and [[colorectal cancer]]. {{PMID|11818965}}

{{omim
|id=604933
|rsnum=36053993
|variant=0002
}}

{{ClinVar
|rsid=36053993
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=45331556
|CHROM=1
|GMAF=0.0037
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050168000a05040516110110
|GENEINFO=MUTYH:4595
|GENE_NAME=MUTYH
|GENE_ID=4595
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.45331556C>T
|CLNSRC=Ambry Genetics; ClinVar; Emory University; GTR; GeneDx; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=a6304; NM_001128425.1:c.1187G>A; 2255; GTR000503285; GDX:492916; NBK107219; 604933.0002
|CLNSIG=5
|CLNCUI=C1837991; C0476089
|CLNDBN=MYH-associated polyposis; Endometrial carcinoma; not provided; Neoplastic Syndromes, Hereditary; AllHighlyPenetrant
|Disease=MYH-associated polyposis; Endometrial carcinoma; not provided; Neoplastic Syndromes; AllHighlyPenetrant
|CLNACC=RCV000005614.4; RCV000005615.1; RCV000079501.1; RCV000115748.2; RCV000121598.1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9963; 0.003673
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM:SNOMED_CT; MedGen
|CLNDSDBID=NBK107219:C1837991:608456:ORPHA220460; C0476089:608089:254878006; C0027672
|COMMON=1
}}

{{PMID Auto
|PMID=21273643
|Title=In vitro functional effects of XPC gene rare variants from bladder cancer patients.
|OA=1
}}

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