{{Rsnum
|rsid=11549407
|Gene=HBB
|Chromosome=11
|position=5226774
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HBB
}}{{omim
|id=141900
|rsnum=11549407
|variant=0004
}}
{{omim
|id=141900
|rsnum=11549407
|variant=0290
}}
{{omim
|id=141900
|rsnum=11549407
|variant=0312
}}
{{HbVar
|id=845
|hgvs=HBB:c.118C>T
|name=Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0
|mut=beta 39(C5) Gln>Stop
|cat=Thalassemias
|type=beta0
}}
{{ClinVar
|rsid=11549407
|Reversed=1
|FwdREF=C
|FwdALT=A,G,T
|REF=G
|ALT=A,C,T
|RSPOS=5248004
|CHROM=11
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050368000000040416110104
|GENEINFO=HBB:3043
|GENE_NAME=HBB
|GENE_ID=3043
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.5248004G>A
|CLNORIGIN=1
|CLNSRCID=
GTR000500319; NBK1426; 845; 141900.0312
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000016656.21; RCV000020327.1
|Tags=RV;PM;PMC;S3D;SLO;VLD;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOV
|CAF=0.9995; 0.0004591; .
|CLNDBN=beta0^ Thalassemia; alpha Thalassemia
|CLNDSDB=MedGen:SNOMED_CT; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0271980:86715000; NBK1426:NBK1435:C0002312:604131:846:68913001
|CLNSRC=GTR; GeneReviews; HBVAR; OMIM Allelic Variant
|COMMON=0
|Disease=beta0^ Thalassemia; alpha Thalassemia
}}{{PMID Auto
|PMID=1734721
|Title=Molecular characterization of beta-thalassemia in the Sardinian population.
|OA=1
}}

{{PMID Auto
|PMID=6457059
|Title=beta zero thalassemia in Sardinia is caused by a nonsense mutation.
|OA=1
}}

{{PMID Auto
|PMID=6985481
|Title=Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
}}

{{PMID Auto
|PMID=2200760
|Title=Beta-thalassemia in Turkey.
}}

{{PMID Auto
|PMID=1115799
|Title=Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).
}}

{{PMID Auto
|PMID=893132
|Title=Hb Vaasa or alpha2beta2 (39(C5)Gln replaced by Glu), a mildly unstable variant found in a Finnish family.
}}

{{on chip | 23andMe v4}}