IthaGenes

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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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