{{Rsnum
|rsid=12421995
|Gene=ALX4
|Chromosome=11
|position=44309759
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3636
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ALX4
}}{{Venter SNP
|rsid=12421995
|allele=A
|frequency=
|uid=1103649673801
|type=heterozygous_SNP
|hugo=ALX4
|ensembl gene=ENSG00000052850
|ensembl transcript=ENST00000329255
|sift=
|disease=Involved in Potocki-Shaffer syndrome (PSS) (MIM:601224). PSS is a contiguous gene syndrome caused by deletion of the 11p11.2 region.
}}

{{PMID|16319823|OA=1
}} Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

{{GET Evidence
|gene=ALX4
|aa_change=Pro102Ser
|aa_change_short=P102S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12421995
|overall_frequency_n=1589
|overall_frequency_d=5266
|overall_frequency=0.301747
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=2
}}

{{ClinVar
|ALT=A
|CAF=0.6364; 0.3636
|CHROM=11
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.44331309G>A
|CLNSIG=1
|COMMON=1
|FwdALT=A
|FwdREF=G
|GENEINFO=ALX4:60529
|GENE_ID=60529
|GENE_NAME=ALX4
|REF=G
|RSPOS=44331309
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;NSM;REF;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD
|VC=SNV
|VP=0x050168000a01170516100100
|WGT=1
|dbSNPBuildID=120
|rsid=12421995
}}

{{PMID Auto
|PMID=12774039
|Title=Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}