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rs33986703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;T) 3 Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible
(AA;AA) 0 common in clinvar
(T;T) 5.5 Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
ReferenceGRCh38 38.1/142
Chromosome11
Position5226970
GeneHBB
is asnp
is mentioned by
dbSNPrs33986703
dbSNP (old)rs33986703
ClinGenrs33986703
ebirs33986703
HLIrs33986703
Exacrs33986703
Gnomadrs33986703
Varsomers33986703
Maprs33986703
PheGenIrs33986703
Biobankrs33986703
1000 genomesrs33986703
hgdprs33986703
ensemblrs33986703
gopubmedrs33986703
geneviewrs33986703
scholarrs33986703
googlers33986703
pharmgkbrs33986703
gwascentralrs33986703
openSNPrs33986703
23andMers33986703
23andMe allrs33986703
SNP Nexus

SNPshotrs33986703
SNPdbers33986703
MSV3drs33986703
GWAS Ctlgrs33986703
Merged fromRs74576531
Max Magnitude5.5

aka c.52A>T (p.Lys18Ter), a beta-zero thalassemia mutation

As noticed by OMIM, Krawczak et al. (2000) pointed out that this was the first single basepair substitution in a human gene underlying a genetic disorder to ever be reported (in [PMID 10612821]).

OMIM141900
Desc
Variant0192
Relatedalso
OMIM141900
Desc
Variant0311
Relatedalso
OMIM141900
Desc
Variant0411
Relatedalso
ClinVar
Risk rs33986703(C;C) rs33986703(G;G) Rs33986703(T;T)
Alt rs33986703(C;C) rs33986703(G;G) Rs33986703(T;T)
Reference Rs33986703(A;A)
Significance Pathogenic
Disease beta^0^ Thalassemia Beta Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248200T>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016655.28, RCV000020337.2,


[PMID 88735OA-icon.png] beta 0 thalassemia, a nonsense mutation in man.

[PMID 10612821] Human gene mutation database-a biomedical information and research resource.


[PMID 9101287] Hb Nagasaki [beta 17 (A14)Lys-->Glu]: a second case found in a Japanese family.


[PMID 2737920] Some abnormal hemoglobin identifications in the U.S.S.R. by micropreparative thin layer peptide mapping.