{{Rsnum
|rsid=11559290
|Gene=ETFDH
|Chromosome=4
|position=158680524
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2773
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ETFDH
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 4.4 | 22.1 | 73.5
| HCB | 0.0 | 5.1 | 94.9
| JPT | 0.0 | 10.6 | 89.4
| YRI | 78.3 | 20.3 | 1.4
| ASW | 49.1 | 50.9 | 0.0
| CHB | 0.0 | 5.1 | 94.9
| CHD | 0.0 | 2.8 | 97.2
| GIH | 5.0 | 26.7 | 68.3
| LWK | 72.2 | 24.1 | 3.7
| MEX | 3.4 | 25.9 | 70.7
| MKK | 39.4 | 43.2 | 17.4
| TSI | 1.0 | 25.5 | 73.5
| HapMapRevision=28
}}{{Venter SNP
|rsid=11559290
|allele=T
|frequency=0.816
|uid=1103654598576
|type=homozygous_SNP
|hugo=ETFDH
|ensembl gene=ENSG00000171503
|ensembl transcript=ENST00000307738
|sift=TOLERATED
|disease=Defects in ETFDH are the cause of glutaric aciduria type IIc (GAIIC) (MIM:231680); also known as glutaricaciduria IIC. GAIIC results in the excretion not only of glutaric acid but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.
}}

{{GET Evidence
|gene=ETFDH
|aa_change=Thr31Ile
|aa_change_short=T31I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11559290
|overall_frequency_n=7008
|overall_frequency_d=10756
|overall_frequency=0.651543
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=72
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}