{{Rsnum
|rsid=28933693
|Gene=SGCA
|Chromosome=17
|position=50167653
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SGCA
}}{{omim
|desc=MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
|id=600119
|rsnum=28933693
|variant=0003
}}
{{ neighbor
| rsid = 28933694
| distance = 745
}}

{{ClinVar
|rsid=28933693
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=48245014
|CHROM=17
|GMAF=0.0014
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000040016110100
|GENEINFO=SGCA:6442
|GENE_NAME=SGCA
|GENE_ID=6442
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.48245014C>T
|CLNSRC=Emory University; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=4022; GTR000232791; 600119.0003
|CLNSIG=5
|CLNCUI=C1842550
|CLNDBN=Limb-girdle muscular dystrophy, type 2D; not provided
|Disease=Limb-girdle muscular dystrophy; not provided
|CLNACC=RCV000010044.4; RCV000077937.1
|Tags=PM;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1842550:608099:62
|COMMON=0
}}

{{GET Evidence
|gene=SGCA
|aa_change=Arg77Cys
|aa_change_short=R77C
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs28933693
|overall_frequency_n=5
|overall_frequency_d=10758
|overall_frequency=0.00046477
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.995
|genetests_testable=Y
|nblosum100=8
|autoscore=5
|webscore=N
|n_web_uneval=10
|summary_short=Limb Girdle Muscular Dystrophy
}}

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