rs41397847
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs41397847(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173548 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41397847 |
| dbSNP (classic) | rs41397847 |
| ClinGen | rs41397847 |
| ebi | rs41397847 |
| HLI | rs41397847 |
| Exac | rs41397847 |
| Gnomad | rs41397847 |
| Varsome | rs41397847 |
| LitVar | rs41397847 |
| Map | rs41397847 |
| PheGenI | rs41397847 |
| Biobank | rs41397847 |
| 1000 genomes | rs41397847 |
| hgdp | rs41397847 |
| ensembl | rs41397847 |
| geneview | rs41397847 |
| scholar | rs41397847 |
| rs41397847 | |
| pharmgkb | rs41397847 |
| gwascentral | rs41397847 |
| openSNP | rs41397847 |
| 23andMe | rs41397847 |
| SNPshot | rs41397847 |
| SNPdbe | rs41397847 |
| MSV3d | rs41397847 |
| GWAS Ctlg | rs41397847 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs41397847(A;A) rs41397847(C;C) rs41397847(G;G) |
| Alt | rs41397847(A;A) rs41397847(C;C) rs41397847(G;G) |
| Reference | Rs41397847(T;T) |
| Significance | Other |
| Disease | Hemoglobin Quong Sze Alpha Thalassemia HEMOGLOBIN PLASENCIA |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | Hemoglobin Quong Sze alpha Thalassemia HEMOGLOBIN PLASENCIA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223547T>C; NC_000016.9:g.223547T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016897.1, RCV000417220.1, RCV000016981.2, |
[PMID 1726096] Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the alpha 2-globin gene and restriction map analysis with Msp I.
[PMID 6826718
] alpha-Thalassemia caused by an unstable alpha-globin mutant.
[PMID 7070526] Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia.
[PMID 7515267] Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization.
[PMID 15921163] A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
[PMID 21077766] A dyserythropoietic anemia associated with homozygous Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2)] (HBA2:c.377T>G), a variant with an unstable alpha chain.
[PMID 20854117] Hb St. Truiden [alpha68(E17)Asn-->His] and Hb Westeinde [alpha125(H8)Leu-->Gln]: two new abnormalities of the alpha2-globin gene.
