rs11549407
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (CA;CA) | 0 | common in clinvar |
| (T;T) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226774 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11549407 |
| dbSNP (classic) | rs11549407 |
| ClinGen | rs11549407 |
| ebi | rs11549407 |
| HLI | rs11549407 |
| Exac | rs11549407 |
| Gnomad | rs11549407 |
| Varsome | rs11549407 |
| LitVar | rs11549407 |
| Map | rs11549407 |
| PheGenI | rs11549407 |
| Biobank | rs11549407 |
| 1000 genomes | rs11549407 |
| hgdp | rs11549407 |
| ensembl | rs11549407 |
| geneview | rs11549407 |
| scholar | rs11549407 |
| rs11549407 | |
| pharmgkb | rs11549407 |
| gwascentral | rs11549407 |
| openSNP | rs11549407 |
| 23andMe | rs11549407 |
| SNPshot | rs11549407 |
| SNPdbe | rs11549407 |
| MSV3d | rs11549407 |
| GWAS Ctlg | rs11549407 |
| Merged from | Rs76728603 |
| GMAF | 0.0004591 |
| Max Magnitude | 5.5 |
| HbVar ID | 845 |
| HGVS name | HBB:c.118C>T |
| Name | Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0 |
| Mutation | beta 39(C5) Gln>Stop |
| Category | Thalassemias |
| Type | beta0 |
| ClinVar | |
|---|---|
| Risk | rs11549407(A;A) rs11549407(G;G) Rs11549407(T;T) |
| Alt | rs11549407(A;A) rs11549407(G;G) Rs11549407(T;T) |
| Reference | Rs11549407(C;C) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia not provided Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia not provided beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248004G>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016656.23, RCV000254827.1, RCV000379715.2, |
[PMID 1734721
] Molecular characterization of beta-thalassemia in the Sardinian population.
[PMID 6457059] 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.
