rs41464951
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Alpha-thalassemia allele carrier |
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| (G;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs41464951(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173598 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41464951 |
| dbSNP (classic) | rs41464951 |
| ClinGen | rs41464951 |
| ebi | rs41464951 |
| HLI | rs41464951 |
| Exac | rs41464951 |
| Gnomad | rs41464951 |
| Varsome | rs41464951 |
| LitVar | rs41464951 |
| Map | rs41464951 |
| PheGenI | rs41464951 |
| Biobank | rs41464951 |
| 1000 genomes | rs41464951 |
| hgdp | rs41464951 |
| ensembl | rs41464951 |
| geneview | rs41464951 |
| scholar | rs41464951 |
| rs41464951 | |
| pharmgkb | rs41464951 |
| gwascentral | rs41464951 |
| openSNP | rs41464951 |
| 23andMe | rs41464951 |
| SNPshot | rs41464951 |
| SNPdbe | rs41464951 |
| MSV3d | rs41464951 |
| GWAS Ctlg | rs41464951 |
| Max Magnitude | 3 |
The reference allele is (T) for rs41464951, a SNP in the HBA2 gene on chromosome 16, and all three missense alternatives are known, leading to c.427T>A, c.427T>Cand c.427T>G, with three similar consequences:
- c.427T>A (p.Ter143Lys) is known as Hemoglobin Icaria and can lead to the subtype of alpha thalassemia known as Hemoglobin H disease
- c.427T>C (p.Ter143Gln) is known as Hemoglobin Constant Spring and may also lead to Hemoglobin H disease
- c.427T>G (p.Ter143Glu) is known as Hemoglobin Seal Rock and may also lead to Hemoglobin H disease
| ClinVar | |
|---|---|
| Risk | rs41464951(A;A) rs41464951(C;C) rs41464951(G;G) |
| Alt | rs41464951(A;A) rs41464951(C;C) rs41464951(G;G) |
| Reference | Rs41464951(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN ICARIA Hemoglobin H disease Hemoglobin constant spring Alpha Thalassemia HEMOGLOBIN SEAL ROCK |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Hemoglobin constant spring alpha Thalassemia HEMOGLOBIN SEAL ROCK |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223597T>A; NC_000016.9:g.223597T>C; NC_000016.9:g.223597T>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016893.2, RCV000022603.6, RCV000016891.2, RCV000022602.6, RCV000169546.1, RCV000016939.1, |
[PMID 1746536] Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene.
[PMID 4413624] Haemoglobin Constant Spring synthesis in red cell precursors.
[PMID 4716657
] Hemoglobin Constant Spring (slow-moving hemoglobin X components) and hemoglobin e in Malayan aborigines.
[PMID 4810076] Homozygous state for Hb Constant Spring (slow-moving Hb X components).
[PMID 4944483] Haemoglobin Constant Spring--a chain termination mutant?
[PMID 5097570] An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease.
[PMID 7502632] Identification of several alpha-globin gene variations in a small Laotian family.
[PMID 7910814] Rapid PCR detection of the Hb constant spring mutation using an artificial-restriction fragment length polymorphism.
[PMID 11146568] Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].
[PMID 2372512] Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.
[PMID 4422784] Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia.
[PMID 8213764] Characterization of nondeletion alpha-thalassemia mutations in the Greek population.
[PMID 8602995] The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.
[PMID 9255612] Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb).
