{{Rsnum
|rsid=6264
|Gene=DDC
|Chromosome=7
|position=50544037
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DDC
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 9.0 | 91.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.9 | 11.1 | 88.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 1.3 | 98.7
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6264
|allele=C
|frequency=1
|uid=1103652572936
|type=homozygous_SNP
|hugo=DDC
|ensembl gene=ENSG00000132437
|ensembl transcript=ENST00000357936
|sift=TOLERATED
|disease=Defects in DDC are the cause of AADC deficiency (MIM:608643). AADC deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.
}}

{{GET Evidence
|gene=DDC
|aa_change=Met17Val
|aa_change_short=M17V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6264
|overall_frequency_n=10683
|overall_frequency_d=10758
|overall_frequency=0.993028
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=111
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=5
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}