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Showing all entries with the following effect: initiation codon (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
3051 | Init CD ACCATG>-CCATG | N/A | HBA2:c.-3delA | α2 | Causative | α-thalassaemia | NG_000006.1 | 33773 |
3604 | Init CD ATG>GTG [Met>Pro] | N/A | HBA2:c.1A>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
3050 | Init CD ATG>TTG [Met>Leu] | N/A | HBA2:c.1A>T | α2 | Causative | α-thalassaemia | NG_000006.1 | 33776 |
344 | Init CD ATG>-TG | N/A | HBA2:c.1delA | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776 |
3754 | Init CD ATG>AAG [Met>Lys] | N/A | HBA2:c.2T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33777 |
2460 | Init CD ATG>AGG [Met>Arg] | N/A | HBA2:c.2T>G | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
343 | Init CD ATG>A-G | N/A | HBA2:c.2delT | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
342 | Init CD ATG>ACG [Met>Thr] | N/A | HBA2:c.2T>C | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33777 |
3564 | Init CD ATG>ATC [Met>Ile] | N/A | HBA2:c.3G>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33778 |
3027 | Init CD ATG>ATT [Met>Ile] | Hb Valdecilla | HBA2:c.3G>T | α2 | Causative | α-chain variant | NG_000006.1 | 33778 |
341 | Init CD ATG>GTG | N/A | HBA1:c.1A>G | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37580 |
3719 | Init CD ATG>ACG [Met>Thr] | N/A | HBA1:c.2T>C | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
3250 | Init CD ATG>A-G | N/A | HBA1:c.2delT | α1 | Causative | α-thalassaemia | NG_000006.1 | 37581 |
3147 | Init CD ATG>AAG [Met>Lys] | N/A | HBA1:c.2T>A | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37581 |
1330 | Init CD ATG>ATA [Met>Ile] | N/A | HBD:c.3G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63185 |
42 | Init CD ATG>GTG | N/A | HBB:c.1A>G | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70595 |
43 | Init CD ATG>CTG | N/A | HBB:c.1A>C | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70595 |
46 | Init CD ATG>AAG | N/A | HBB:c.2T>A | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70596 |
45 | Init CD ATG>AGG | N/A | HBB:c.2T>G | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70596 |
44 | Init CD ATG>ACG | N/A | HBB:c.2T>C | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70596 |
49 | Init CD ATG>ATT | N/A | HBB:c.3G>T | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70597 |
48 | Init CD ATG>ATA | N/A | HBB:c.3G>A | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70597 |
47 | Init CD ATG>ATC | N/A | HBB:c.3G>C | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70597 |
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IthaGenes was last updated on 2024-11-14 09:07:40