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Showing all entries with the following effect: 5'utr (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
3726 | Cap +11 T>A | N/A | HBA2:c.-27T>A | α2 | Causative | α-thalassaemia | NG_000006.1 | 33749 |
2481 | CAP +14 C>G | N/A | HBA2:c.-24C>G | α2 | Neutral | N/A | NG_000006.1 | 33752 |
3727 | Cap +23 C>G | N/A | HBA2:c.-15C>G | α2 | Causative | α-thalassaemia | NG_000006.1 | 33761 |
3728 | Cap +30 A>C | N/A | HBA2:c.-8A>C | α2 | Causative | α-thalassaemia | NG_000006.1 | 33768 |
3614 | CAP +14 C>G | N/A | HBA1:c.-24C>G | α1 | Neutral | α-thalassaemia | NG_000006.1 | 37556 |
340 | CAP +22 T>C | N/A | HBA1:c.-16T>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37564 |
3735 | Cap +23 C>G | N/A | HBA1:c.-15C>G | α1 | Causative | α-thalassaemia | NG_000006.1 | 37565 |
2203 | CAP +29 (G>C) | N/A | HBA1:c.-9G>C | α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 37571 |
2945 | rs368698783 (Aγ(+25 G>A)) | N/A | NG_000007.3:g.47783G>A | Aγ | Modifier | Hb F levels | NG_000007.3 | 47783 |
2202 | CAP +53 (G>A) | N/A | HBD:c.-1G>A | δ | Causative | δ-thalassaemia | NG_000007.3 | 63024 |
3386 | -76 C>A | N/A | HBB:c.-126C>A | β | Causative | β-thalassaemia | NG_000007.3 | 70469 |
34 | CAP +1 (A>C) | N/A | HBB:c.-50A>C | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70545 |
3464 | CAP +3 A>T | N/A | HBB:c.-48A>T | β | Causative | β-thalassaemia | NG_000007.3 | 70547 |
35 | CAP +8 (C>T) | N/A | HBB:c.-43C>T | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70552 |
36 | CAP +10 (-T) (5'UTR +10 (-T)) | N/A | HBB:c.-41delT | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70554 |
3627 | CAP +20 (-C) | N/A | HBB:c.-31delC | β | Causative | β-thalassaemia | NG_000007.3 | 70564 |
37 | CAP +20 C>T; IVS II-745 C>G | N/A | HBB:c.[-31C>T;316-106C>G] | β | Neutral | N/A | NG_000007.3 | 70564, 71784 |
38 | CAP +22 (G>A) | N/A | HBB:c.-29G>A | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70566 |
3345 | CAP +22 (G>T) | N/A | HBB:c.-29G>T | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70566 |
2536 | CAP +30 T>A | N/A | HBB:c.-21T>A | β | Causative | β-thalassaemia | NG_000007.3 | 70574 |
39 | CAP +33 (C>G) | N/A | HBB:c.-18C>G | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70577 |
2176 | CAP +39 C>T | N/A | HBB:c.-12C>T | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70583 |
40 | CAP +41 to +44 (-AACA) (CAP +40 to +43 (-AAAC)) | N/A | HBB:c.-10_-7delAACA | β | Causative | β-thalassaemia | NG_000007.3 | 70585 |
41 | CAP +45 (G>C) | Hb Odisha | HBB:c.-6G>C | β | Causative | β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 70589 |
3205 | rs2814778 | N/A | NG_011626.2:g.5174T>C | ACKR1 | Modifier | Abnormal neutrophil cell number, Abnormal white blood cell count, Albuminuria | NG_011626.1 | 5174 |
3358 | rs2297339 ( C32T, -162C>T) | N/A | NG_012002.1:g.5046C>T | HBS1L | Modifier | Hb F levels | NG_012002.1 | 5046 |
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IthaGenes was last updated on 2024-12-12 10:33:52