IthaGenes

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Showing all entries involving gene HBM (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3265	α-globin cluster triplication	N/A	NC_000016.10:g.(53322_113530)_(181203_206337)dup	HS40, ζ, α2, α1, HBM	Modifier	α-thalassaemia	NG_000006.1
3292	15 kb deletion	N/A	NC_000016.10:g.172736_187935del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3296	--GB	N/A	NC_000016.9:g.(161901_161910)_(178672_178681)del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1
3821	--196	N/A	NC_000016.10:g.35880_(232158_243266)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
3822	--227	N/A	NC_000016.10:g.35880_(262740_268502)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
3889	(αα)Aurora Borealis	N/A	NC_000016.10:g.(48303_50379)_ (165612_167685)del	HS40, ζ, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
3937	188.7 kb dup	N/A	NC_000016.10:g.62166_250991del	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3938	120.5 kb dup	N/A	NC_000016.10:g.98546_219042del	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3939	~274 kb dup	N/A	N/A	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Modifier	N/A	NG_000006.1
4014	αααα(159)	N/A	NC_000016.10:g.(63142_63147)_(222524_222529)dup	ζ, α2, α1, NPRL3, HBM	Modifier	α-thalassaemia	NG_000006.1
4060	--AG	N/A	NC_000016.10:g.10001_(284537_284542)del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
4061	--Puglia	N/A	NC_000016.10:g.(54016_55432)_(220780_223388)del	HS40, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
4062	285 kb deletion	N/A	N/A	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1
4082	--LAMPHUN (27 kb deletion with 9 bp insertion (Lamphun deletion))	N/A	N/A	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1
4095	--Guigang (145 kb deletion)	N/A	NC_000016.10:g.127815_273190del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1
4101	αααα(165)	N/A	NC_000016.10:g.59867_224557dup	HS40, ζ, α2, α1, NPRL3, HBM	Modifier	N/A	NG_000006.1
3255	--MEX3	N/A	NC_000016.10:g.151479_182582del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	0
3273	--VS	N/A	NC_000016.10:g.(100364_105222)_(376261_986851)del	HS40, ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	0
3274	--CBR	N/A	NC_000016.10:g.(?_53322)_(177893_179815)del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	0
3284	--PG	N/A	NC_000016.10:g.93628_542759del450131	HS40, ζ, α2, α1, NPRL3, HBM, AXIN1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3295	225 kb deletion	N/A	NC_000016.10:g.56407_281805del	HS40, ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3327	--GX	N/A	NC_000016.10:g.(41492_43628)_(247888_254167)del	HS40, ζ, α2, α1, NPRL3, HBM	Causative	α-thalassaemia	NG_000006.1	0
3214	44.6 kb deletion	N/A	NC_000016.10:g.144215_188841del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	5078
3595	--CR	Hb Chiang Rai	NC_000016.10:g.144215_188843del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	5078
4057	--PA	N/A	NC_000016.10:g.(146281_146304)_(180074_180097)del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	7144
3408	--60.2	N/A	NC_000016.10:g.147589_207883del	ζ, α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	8452
4110	146 kb deletion	N/A	NC_000016.10:g.148636_295089del	ζ, α2, α1, HBM, AXIN1	Causative	α-thalassaemia	NG_000006.1	9499
3963	32.8 kb deletion	N/A	NC_000016.10:g.149860_182697del	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	10723
4019	27.2 kb deletion (--27.2)	N/A	NC_00016.10:g.154539_181778delinsTAACA	ζ, α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	15402
3947	27.3 kb deletion	N/A	NC_000016.10:g.158664_185974del	α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	19527
3294	22 kb deletion	N/A	NG_000006.1:g.20350_42078del	α2, α1, HBM	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	20350
3945	15.8 kb deletion (NG_000006.1:g.24749_40631del)	N/A	NC_000016.10:g.163886_179768del	α2, α1, HBM	Causative	α-thalassaemia	NG_000006.1	24749
3192	rs141494605	N/A	NG_000006.1:g.27457T>C	HBM	Modifier	Anaemia	NG_000006.1	27457

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