IthaGenes

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Showing all entries with (εGγAγδβ)0 phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1540	Hispanic (εγδβ)0	N/A	NC_000011.10:g.5279573_5319355del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3
1542	Dutch I (εγδβ)0	N/A	NC_000011.10:g.5229432_5329263del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
1549	Dutch IV	N/A	NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del	βLCR, ε, Aγ, Gγ, OR51B5, OR51B6	Causative	εγδβ-thalassaemia	NG_000007.3
1550	Dutch V	N/A	NC_000011.10:g.(5269965_5275919)_(5409809_5430375)del	βLCR, OR51B5, OR51B6, OR51M1, OR51B2, OR51B4	Causative	εγδβ-thalassaemia	NG_000007.3
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3
2418	Swiss (εγδβ)0	N/A	NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
2548	Inv-Del English V	N/A	NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
3570	1.78Mb εγδβ(0) del (Bedouin)	N/A	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3578	2.2 Mb deletion	N/A	NC_000011.10:g.4052720_6253287del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3606	177 Kb deletion	N/A	NC_000011.10:g.5241050_5418009del	βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1538	English I (εγδβ)0	N/A	N/A	βLCR, ε, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1541	Croatian (εγδβ)0	N/A	NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1543	English II	N/A	NC_000011.10:g.5262849_5360616del	βLCR, ε	Causative	εγδβ-thalassaemia	NG_000007.3	0
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1545	English IV	N/A	NC_000011.10:g.5156866_5595894del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1547	Dutch II	N/A	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia	NG_000007.3	0
1548	Dutch III	N/A	NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia	NG_000007.3	0
1551	Dutch VI	N/A	NC_000011.10:g.(?_5227218)_(5373082_5382848)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1552	Japanese	N/A	NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2158	Pakistani I	N/A	NC_000011.10:g.5194461_5700474delins[250inv]	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2161	French (εγδβ)0 insertion/deletion	N/A	NG_000007.3:g.7751_18905delins[13569_13579inv;13364_13549inv]	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	0
2163	Norwegian (εγδβ)0	N/A	NC_000011.10:g.5228098_5358569del	βLCR, ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3340	Brazilian (εγδβ)0	N/A	NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3	0
3577	59 Kb deletion	N/A	NC_000011.10:g.5236469_5295261del	βLCR, ε, Aγ, Gγ	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3	2355
2165	Puerto Rican (εγδβ)0	N/A	NG_000007.3:g.2904_25432del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	2904
3849	~72 kb εγδβ(0) del	N/A	NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	9260
2164	Tennessean (εγδβ)0	N/A	NG_000007.3:g.10054_21931del	βLCR	Causative	εγδβ-thalassaemia	NG_000007.3	10054
3270	Chinese I (εγδβ)0	N/A	NC_000011.10:g.5036736_5270337del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia	NG_000007.3	27279
3868	>35.3 Kb deletion	N/A	NG_000007.3:g.(21655_27675)_(63032_64586)del	ε, Aγ, Gγ, δ, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	27675

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