IthaGenes

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Showing all entries with the following effect: nonsense codon (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2469	CD 7 AAG>TAG	N/A	HBA2:c.22A>T	α2	Causative	α-thalassaemia	NG_000006.1	33797
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33820
354	CD 23 GAG>TAG [Glu>STOP]	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33845
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33850
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia	NG_000006.1	33850
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34055
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34076
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34163
3610	CD 99 AAG>TAG [Lys>STOP]	N/A	HBA2:c.298A>T	α2	Causative	α-thalassaemia	NG_000006.1	34190
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
2519	CD 127 AAG>TAG [Lys>STOP]	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia	NG_000006.1	34416
777	CD 140 TAC>TAA	Hb Natal	HBA2:c.423C>A	α2	Causative	α-chain variant	NG_000006.1	34457
349	CD 14 TGG>TAG [Trp>STOP]	N/A	HBA1:c.44G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37623
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia	NG_000006.1	37628
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37649
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia	NG_000006.1	37670
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia	NG_000006.1	37880
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia	NG_000006.1	37994
3864	CD 116 GAG>TAG [Glu>Stop]	N/A	HBA1:c.349G>T	α1	Causative	α-thalassaemia	NG_000006.1	38194
4017	CD 139 AAA>TAA [Lys>STOP] (Tenerife)	Hb Nivaria	HBA1:c.418A>T	α1	Causative	α-chain variant	NG_000006.1	38263
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63204
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
3844	CD 87 CAG>TAG [Gln>STOP]	N/A	HBD:c.262C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63572
3598	CD 93/94 (-TG) [Cys>STOP]	N/A	HBD:c.282_283delTG	δ	Causative	N/A	NG_000007.3	63592
55	CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG)	N/A	HBB:c.[15T>A;16C>T;19G>T]	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70609, 70610, 70613
56	CD 6 (GAG>TAG)	N/A	HBB:c.19G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70613
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70616
72	CD 15 TGG>TAG	N/A	HBB:c.47G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70641
73	CD 15 TGG>TGA	N/A	HBB:c.48G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70642
77	CD 17 AAG>TAG [Lys>STOP]	N/A	HBB:c.52A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70646
83	CD 22 (GAA>TAA)	N/A	HBB:c.67G>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70661
89	CD 26 (GAG>TAG)	N/A	HBB:c.79G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
3023	CD 35 TAC>TAG	N/A	HBB:c.108C>G	β	Causative	β-thalassaemia	NG_000007.3	70832
133	CD 35 TAC>TAA	N/A	HBB:c.108C>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70832
138	CD 37 (TGG>TAG)	N/A	HBB:c.113G>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70837
137	CD 37 (TGG>TGA)	N/A	HBB:c.114G>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70838
142	CD 39 CAG>TAG [Gln>STOP]	N/A	HBB:c.118C>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70842
169	CD 59 (AAG>TAG)	N/A	HBB:c.178A>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70902
3855	CD 60 GTG>-TG [Val>STOP]	N/A	HBB:c.181delG	β	Causative	β-thalassaemia	NG_000007.3	70905
172	CD 61 (AAG>TAG)	N/A	HBB:c.184A>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70908
174	CD 66 AAA>TAA [Lys>STOP]	N/A	HBB:c.199A>T	β	Causative	β-thalassaemia	NG_000007.3	70923
192	CD 90 GAG>TAG	N/A	HBB:c.271G>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70995
235	CD 112 (TGT>TGA)	N/A	HBB:c.339T>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71913
244	CD 121 GAA>TAA (120aa)	N/A	HBB:c.364G>T	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71938
255	CD 127 CAG>TAG [Gln>STOP]	N/A	HBB:c.382C>T	β	Causative	β-chain variant, β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71956
2196	CD 130 TAT>TAA [Tyr>STOP]	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71967
3860	CD 130 TAT>TAG [Tyr>STOP]	N/A	HBB:c.393T>G	β	Causative	β-thalassaemia	NG_000007.3	71967
258	CD 131 (CAG>TAG)	N/A	HBB:c.394C>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	71968
262	CD 132 (AAA>TAA)	N/A	HBB:c.397A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
2364	CD 144 AAG>TAG	Hb Cambridge-MA	HBB:c.433A>T	β	Causative	β-chain variant	NG_000007.3	72007
3400	CD 147 TAA>CAA [Stop>Gln]	Hb Zunyi	HBB:c.442T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3697	CD 147 TAA>ΑAA [Stop>Lys]	Hb Mokum	HBB:c.442T>A	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3444	CD 147 TAA>TCA [Stop>Ser]	Hb Kanagawa	HBB:c.443A>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72017
4104	CD 147 TAA>ΑAC [Stop>Tyr]	N/A	HBB:c.444A>C	β	Causative	β-thalassaemia	NG_000007.3	72018
3087	CD 217 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6623C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6623
3088	CD223 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6641C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6641
2131	CD 270 (TCG>TAG)	N/A	NG_013087.1:g.6783C>A	KLF1	Modifier	Hb F levels	NG_013087.1	6783
2088	CD 288 (AAG>TAG)	N/A	NG_013087.1:g.6836A>T	KLF1	Modifier	Hb F levels	NG_013087.1	6836
2293	CD 326 (GAG>AAG)	N/A	NG_013087.1:g.7207G>T	KLF1	Modifier	N/A	NG_013087.1	7207
2294	CD 327 (ACC>AGC)	N/A	NG_013087.1:g.7210C>G	KLF1	Modifier	N/A	NG_013087.1	7210
3978	rs772591609 (p.Arg7Ter)	N/A	NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T	GATAD2A	Modifier	Hb F levels	NM_001384528.1

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