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rs11549407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 1 Beta Thalassemia carrier, Beta Thalassemia intermedia, Hemoglobin beta-zero, nonsense mutation
(CA;CA) 0 common in clinvar
(T;T) 3.5 Beta Thalassemia major, Hemoglobin beta-zero, nonsense mutation
ReferenceGRCh38 38.1/142
Chromosome11
Position5226774
GeneHBB
is asnp
is mentioned by
dbSNPrs11549407
ebirs11549407
HLIrs11549407
Exacrs11549407
Varsomers11549407
Maprs11549407
PheGenIrs11549407
hapmaprs11549407
1000 genomesrs11549407
hgdprs11549407
ensemblrs11549407
gopubmedrs11549407
geneviewrs11549407
scholarrs11549407
googlers11549407
pharmgkbrs11549407
gwascentralrs11549407
openSNPrs11549407
23andMers11549407
23andMe allrs11549407
SNP Nexus

SNPshotrs11549407
SNPdbers11549407
MSV3drs11549407
GWAS Ctlgrs11549407
Merged fromRs76728603
GMAF0.0004591
Max Magnitude3.5
OMIM141900
Desc
Variant0004
Relatedalso
OMIM141900
Desc
Variant0290
Relatedalso
OMIM141900
Desc
Variant0312
Relatedalso
HbVar ID845
HGVS nameHBB:c.118C>T
NameCodon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0
Mutationbeta 39(C5) Gln>Stop
CategoryThalassemias
Typebeta0
ClinVar
Risk rs11549407(A,G,T;A,G,T)
Alt rs11549407(A,G,T;A,G,T)
Reference rs11549407(C;C)
Significance Pathogenic
Disease beta^0^ Thalassemia alpha Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia alpha Thalassemia
Reversed 1
HGVS NC_000011.9:g.5248004G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016656.23, RCV000020327.1,


[PMID 1734721OA-icon.png] Molecular characterization of beta-thalassemia in the Sardinian population.


[PMID 6457059OA-icon.png] beta zero thalassemia in Sardinia is caused by a nonsense mutation.


[PMID 6985481] Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.


[PMID 2200760] Beta-thalassemia in Turkey.


[PMID 1115799] Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).


[PMID 893132] Hb Vaasa or alpha2beta2 (39(C5)Gln replaced by Glu), a mildly unstable variant found in a Finnish family.