{{Rsnum
|rsid=63750315
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=PLEKHG5
|position=6469444
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PLEKHG5
}}{{omim
|id=611101
|rsnum=63750315
|variant=0001
}}

{{ClinVar
|rsid=63750315
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=6469444
|CHROM=1
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050268000a05000002110100
|GENEINFO=PLEKHG5:57449
|GENE_NAME=PLEKHG5
|GENE_ID=57449
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.6469444A>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_020631.4:c.1940T>C; 611101.0001
|CLNSIG=5
|CLNCUI=C1970211; C1970211; C1970211; C1970211
|CLNDBN=Distal spinal muscular atrophy, autosomal recessive 4
|Disease=Distal spinal muscular atrophy
|CLNACC=RCV000001074.2
|Tags=RV;PM;PMC;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1970211:611067:ORPHA206580
}}

{{PMID Auto
|PMID=17564964
|Title=The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
|OA=1
}}

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