IthaGenes

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Showing all entries with Hyperunstable phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2538	CD 25 GGT>GAT [Gly>Asp]	Hb Cibeles	HBA2:c.77G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33852
3217	CD 31 AGG>TGG [Arg>Trp]	Hb Debao	HBA2:c.94A>T	α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	33869
2487	CD 31 AGG>GGG [Arg>Gly]	Hb Maranon	HBA2:c.94A>G	α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	33869
2209	CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía)	Hb Rotterdam	HBA2:c.98T>G	α2	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	33990
3801	CD 42 TAC>TGC [Tyr>Cys]	Hb Hauteluce	HBA2:c.128A>G	α2	Causative	α-chain variant	NG_000006.1	34020
529	CD 43 TTC>TTG [Phe>Leu]	Hb Hirosaki	HBA2:c.132C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34024
379	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA2:c.178G>C	α2	Causative	α-chain variant, α-thalassaemia, Haemolytic anaemia	NG_000006.1	34070
2420	CD 104 TGC>CGC [Cys>Arg]	Hb Iberia	HBA2:c.313T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34347
2991	CD 108 ACC>AAC [Thr>Asn]	Hb Rogliano	HBA1:c.326C>A	α1	Causative	α-chain variant	NG_000006.1	34360
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
2951	CD 118 ACC>ATC [Thr>Ile]	Hb Cervantes	HBA2:c.356C>T	α2	Causative	α-chain variant, α-thalassaemia	NG_000006.1	34390
3404	CD 133-135 (-AGCACCG)	Hb Aalesund	HBA2:c.400_406del	α2	Causative	α-chain variant	NG_000006.1	34434
2526	CD 142 TAA>TTA >172aa	Hb Kinshasa	HBA2:c.428A>T	α2	Causative	α-chain variant	NG_000006.1	34462
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37641
3252	CD 32 ATG>ATA [Met>Ile]	Hb Amsterdam-A1	HBA1:c.99G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37795
3557	CD 43 TTC>CTC [Phe>Leu]	Hb Vanvitelli	HBA1:c.130T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37826
2993	CD 49 AGC>AAC [Ser>Asn]	Hb Furuset	HBA1:c.149G>A	α1	Causative	α-chain variant	NG_000006.1	37845
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38158
701	CD 106 CTG>CCG [Leu>Pro]	Hb Charlieu	HBA1:c.320T>C	α1	Causative	α-chain variant	NG_000006.1	38165
2414	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze II	HBA1:c.377T>C	α1	Causative	α-chain variant	NG_000006.1	38222
416	CD 131 (+T) >175aa	Hb Pak Num Po	HBA1:c.396dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38241
753	CD 131 TCT>TC-	Hb Fez	HBA1:c.396delT	α1	Causative	α-chain variant	NG_000006.1	38241
760	CD 134 -C	Hb Senlis	HBA1:c.404delC	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	38249
53	CD 2/3 (+T); CD 5 (-C)	Hb Antalya	HBB:c.[9dupT; 17delC]	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70603, 70611
64	CD 9/10 (+T)	Hb Gaziantep	HBB:c.30dupT	β	Causative	β-thalassaemia, β-chain variant, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70624
3399	CD 9 TCT>TC-	Hb Antep	HBB:c.30delT	β	Causative	β-chain variant	NG_000007.3	70624
2387	CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu]	Hb Brevedent	HBB:c.[202G>A ;126C>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70850
2461	CD 42 TTT>ATT [Phe>Ile]	Hb Oslo	HBB:c.127T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70851
2976	CD 64 GGC>GTC [Gly>Val]	Hb Calgary	HBB:c.194G>T	β	Causative	β-chain variant, β-thalassaemia	NG_000007.3	70918
2525	CD 68/69 (+AAAGTGCTC)	Hb Bronx	HBB:c.199_207dupAAAGTGCTC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70923
2965	CD 89-90 (-TGAG)	Hb Wilde	HBB:c.270_273delTGAG	β	Causative	β-chain variant	NG_000007.3	70994
2966	CD 98/99 (+TG)	Hb Patagonia	HBB:c.296_297dup	β	Causative	β-chain variant	NG_000007.3	71020
198	CD 100 (-CC,+TCTGAGAACTT) >158aa	N/A	HBB:c.301_302delCCinsTCTGAGAACTT	β	Causative	β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71025
230	CD 106 CTG>CGG [Leu>Arg]	Hb Terre Haute	HBB:c.320T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71894
1166	CD 106 CTG>CCG [Leu>Pro] (Hb Casper)	Hb Southampton	HBB:c.320T>C	β	Causative	β-chain variant	NG_000007.3	71894
3384	CD 110 CTG>CGG [Leu>Arg]	Hb London-Ontario	HBB:c.332T>G	β	Causative	β-chain variant	NG_000007.3	71906
3308	CD 115-116 (-CC, +G) >156aa	Hb Grand Junction	HBB:c.348_349delinsG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71922
2193	CD 117 -C	N/A	HBB:c.354delC	β	Causative	β-chain variant, β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71928
247	CD 124 (-A) >156aa	N/A	HBB:c.375delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71949
3951	CD 129-133 (-CCTATCAGAAAGT)	Hb Phoenix	HBB:c.389_401del	β	Causative	β-chain variant	NG_000007.3	71963
3249	CD 135 GCT>GC-	Hb Urumqi	HBB:c.408delT	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71982
3370	CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT)	Hb Templeuve	HBB:c.[421G>A;418_420delAAT]	β	Causative	β-chain variant	NG_000007.3	71992, 71995
3400	CD 147 TAA>CAA [Stop>Gln]	Hb Zunyi	HBB:c.442T>C	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

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