{{Rsnum
|rsid=28929470
|Gene=SERPINA1
|Chromosome=14
|position=94381049
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SERPINA1
}}{{omim
| id = 107400
| variant = 0007
| desc    = PI F
| rsnum   = 28929470
}}
{{ neighbor
| rsid = 28929472
| distance = 100
}}
{{ neighbor
| rsid = 6647
| distance = 29
}}

{{GET Evidence
|gene=SERPINA1
|aa_change=Arg247Cys
|aa_change_short=R247C
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs28929470
|overall_frequency_n=28
|overall_frequency_d=10758
|overall_frequency=0.00260271
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|pph2_score=0.948
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=4
|webscore=N
|variant_evidence=2
|clinical_importance=0
|summary_short=Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease.
}}

{{ClinVar
|ALT=A
|CAF=0.9986; 0.001377
|CHROM=14
|CLNACC=RCV000019561.1
|CLNALLE=1
|CLNDBN=PI F
|CLNHGVS=NC_000014.8:g.94847386G>A
|CLNSIG=255
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=107400.0007
|COMMON=1
|Disease=PI F
|FwdALT=T
|FwdREF=C
|GENEINFO=SERPINA1:5265
|GENE_ID=5265
|GENE_NAME=SERPINA1
|REF=G
|RSPOS=94847386
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;S3D;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050360000000040016110100
|WGT=0
|dbSNPBuildID=130
|rsid=28929470
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}