{{Rsnum
|rsid=1800279
|Gene=DMD
|Chromosome=X
|position=31478281
|Orientation=plus
|GMAF=0.01209
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DMD
}}{{omim
|id=300377
|rsnum=1800279
|variant=0063
}}{{ClinVar
|rsid=1800279
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=31496398
|CHROM=X
|GMAF=0.0120555
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050160000000140516110100
|GENEINFO=DMD:1756
|GENE_NAME=DMD
|GENE_ID=1756
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.31496398T>C
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=516; 300377.0063
|CLNSIG=5
|CLNCUI=C0917713
|CLNDBN=Becker muscular dystrophy; AllHighlyPenetrant
|Disease=Becker muscular dystrophy; AllHighlyPenetrant
|CLNACC=RCV000012020.16; RCV000080812.1
|Tags=RV;PM;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9879; 0.01209
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1119:C0917713:300376:98895:387732009; CN169374
|COMMON=1
}}{{GET Evidence
|gene=DMD
|aa_change=His2921Arg
|aa_change_short=H2921R
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800279
|overall_frequency_n=181
|overall_frequency_d=8759
|overall_frequency=0.0206645
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=5
|webscore=N
|n_web_uneval=1
|variant_evidence=0
|clinical_importance=0
|summary_short=Thought to be a rare nonpathogenic polymorphism.
}}