{{Rsnum
|rsid=28940889
|Gene=IVD
|Chromosome=15
|position=40415454
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.0009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IVD
}}{{omim
|desc=ISOVALERIC ACIDEMIA
|id=607036
|rsnum=28940889
|variant=0007
}}

{{ClinVar
|rsid=28940889
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=40707653
|CHROM=15
|GMAF=0.0009
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000040016110100
|GENEINFO=IVD:3712
|GENE_NAME=IVD
|GENE_ID=3712
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.40707653C>T
|CLNSRC=Emory University; GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=1161; GTR000167661; 607036.0007
|CLNSIG=5
|CLNCUI=C0268575
|CLNDBN=Isovaleryl-CoA dehydrogenase deficiency; not provided
|Disease=Isovaleryl-CoA dehydrogenase deficiency; not provided
|CLNACC=RCV000003749.1; RCV000080003.1
|Tags=PM;S3D;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9991; 0.0009183
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1134:C0268575:243500:33:87827003
|COMMON=0
}}

{{GET Evidence
|gene=IVD
|aa_change=Ala311Val
|aa_change_short=A311V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28940889
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.974
|genetests_testable=Y
|nblosum100=2
|autoscore=4
|n_web_uneval=1
}}

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