{{Rsnum
|rsid=104894190
|Chromosome=11
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=AIP
|position=67490911
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=AIP
}}{{omim
|id=605555
|rsnum=104894190
|variant=0008
}}{{ClinVar
|rsid=104894190
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=67258382
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=AIP:9049
|GENE_NAME=AIP
|GENE_ID=9049
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.67258382G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK97965; 605555.0008
|CLNSIG=5
|CLNCUI=C0221406
|CLNDBN=Pituitary dependent hypercortisolism
|Disease=Pituitary dependent hypercortisolism
|CLNACC=RCV000005171.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK97965:C0221406:219090:96253:190502001
}}{{GET Evidence
|gene=AIP
|aa_change=Arg304Gln
|aa_change_short=R304Q
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs104894190
|overall_frequency_n=6
|overall_frequency_d=10744
|overall_frequency=0.000558451
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.417
|genetests_testable=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=Proposed to cause predisposition to pituitary adenomas, seen in a single Cushing's syndrome case. Many individuals have pituitary adenomas (about one in five), very few go on to cause hormonal dysregulation. The single case reported for this variant lacked statistical significance.
}}