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Showing all entries with HPFH phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3436	Yugoslavian non-deletional HPFH	N/A	N/A	Gγ, Aγ	Causative	HPFH, Hb F levels	NG_000007.3
3435	Gγ-Atlanta HPFH (Atlanta non-deletional HPFH, Atlanta type of HPFH)	N/A	N/A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	pseudo β, δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	0
1502	Italian 1 (HPFH-4)	N/A	N/A	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42268
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42633
3943	-200 (+CC)	N/A	HBG2:c.-253_-254dup	Gγ	Causative	HPFH	NG_000007.3	42634
1556	-200 +C (Tunisian non-deletional HPFH)	N/A	HBG2:c.-253dup	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42635
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42638
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42639
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42660
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42725
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42726
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42798
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	OR51V1, pseudo β, β, δ, Aγ, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1565	-211 C>T (Venezuelan non-deletional HPFH)	N/A	HBG1:c.-264C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47548
1566	-202 C>T (Black non-deletional HPFH)	N/A	HBG1:c.-255C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47557
1567	-201 C>T (Greek non-deletional HPFH)	N/A	HBG1:c.-254C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47558
1568	-198 T>C (British non-deletional HPFH)	N/A	HBG1:c.-251T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47561
2301	-197 C>T	N/A	HBG1:c.-250C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47562
1569	-196 C>T (Italian/Chinese non-deletional HPFH)	N/A	HBG1:c.-249C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47563
1570	-195 C>G (Brazilian non-deletional HPFH)	N/A	HBG1:c.-248C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47564
1571	-175 T>C (Black non-deletional HPFH)	N/A	HBG1:c.-228T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47584
1572	-158 C>T (Cretan non-deletional HPFH)	N/A	HBG1:c.-211C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47601
1573	-117 G>A (Greek/Italian/Black non-deletional HPFH)	N/A	HBG1:c.-170G>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47642
1574	-114 to -102 (13 bp deletion , Black non-deletional HPFH)	N/A	HBG1:c.-167_-155delCAATAGCCTTGAC	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
1575	-114 C>T (Georgian non-deletional HPFH)	N/A	HBG1:c.-167C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
3025	-114 C>G (African-American/Hispanic non-deletional HPFH)	N/A	HBG1:c.-167C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
2302	-113 A>G	N/A	HBG1:c.-166A>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47646
1498	(Kenya, HPFH-7)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, pseudo β, β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	pseudo β, δ, β	Causative	HPFH, Hb F levels	NG_000007.3	53390
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	pseudo β, β, δ	Causative	HPFH, Hb F levels	NG_000007.3	54867
2156	Algerian HPFH deletion	N/A	NG_000007.3:g.57141_81002del; 81008delA	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	57141, 81008
2155	French West-Indies deletion/insertion (French West-Indies HPFH deletion)	N/A	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	57155
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	59478
2154	French deletion/insertion (French HPFH deletion)	N/A	NG_000007.3:g.[61399_61400insC; 61402_81144del]	β, δ	Causative	HPFH, Hb F levels	NG_000007.3	61402
2124	Caucasian HPFH (27825 bp deletion)	N/A	NC_000011.10:g.5201455_5229279delins5223936_5223960	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68337

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