Hbg1 Variant Search Result - Rat Genome Database

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44 records found for search term Hbg1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151349850	CV1321083	single nucleotide variant	NM_000559.3(HBG1):c.*4C>T	Hereditary persistence of fetal hemoglobin [RCV002227277]\|not provided [RCV004718976]	benign	11	5248355	5248355	Human	1	name
151349967	CV1321259	single nucleotide variant	NM_000559.3(HBG1):c.*6C>T	Hereditary persistence of fetal hemoglobin [RCV002227279]\|not provided [RCV004718977]	benign	11	5248353	5248353	Human	1	name
151349970	CV1321264	single nucleotide variant	NM_000559.3(HBG1):c.*3T>C	Hereditary persistence of fetal hemoglobin [RCV002227280]\|not provided [RCV004718978]	benign	11	5248356	5248356	Human	1	name
151349552	CV1321359	single nucleotide variant	NM_000559.3(HBG1):c.*5A>C	Hereditary persistence of fetal hemoglobin [RCV002227281]\|not provided [RCV004718979]	benign	11	5248354	5248354	Human	1	name
405284713	CV3196996	duplication	NM_000559.3(HBG1):c.*2dup	HBG1-related disorder [RCV003979837]	benign	11	5248356	5248357	Human		name , trait , alternate_id
405288233	CV3200601	deletion	NM_000559.3(HBG1):c.*6del	HBG1-related disorder [RCV003982314]	benign	11	5248353	5248353	Human		name , trait , alternate_id
126753261	CV1036027	single nucleotide variant	NM_000559.3(HBG1):c.-29G>A	Hereditary persistence of fetal hemoglobin [RCV001352921]\|Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome [RCV005369849]\|not specified [RCV003321829]	pathogenic\|uncertain significance	11	5249833	5249833	Human	1	name
8564638	CV30078	single nucleotide variant	NM_000559.3(HBG1):c.9T>G (p.His3Gln)	HEMOGLOBIN F (MACEDONIA-I) [RCV000016183]	other	11	5249796	5249796	Human		name
152978127	CV1671421	single nucleotide variant	NM_000559.3(HBG1):c.14C>G (p.Thr5Arg)	Hereditary persistence of fetal hemoglobin [RCV002227380]	uncertain significance	11	5249791	5249791	Human	1	name
8564618	CV30055	single nucleotide variant	NM_000559.3(HBG1):c.20A>G (p.Glu7Gly)	HEMOGLOBIN F (IZUMI) [RCV000016156]\|HEMOGLOBIN F (KOTOBUKI) [RCV000030903]	other	11	5249785	5249785	Human		name
8564622	CV30060	single nucleotide variant	NM_000559.3(HBG1):c.19G>C (p.Glu7Gln)	HEMOGLOBIN F (PORDENONE) [RCV000016161]	other	11	5249786	5249786	Human		name
8564624	CV30063	single nucleotide variant	NM_000559.2(HBG1):c.16G>A (p.Glu6Lys)	HEMOGLOBIN F (TEXAS I) [RCV000016165]\|Hereditary persistence of fetal hemoglobin [RCV003114194]	likely benign\|other	11	5249789	5249789	Human	1	name
151349657	CV1321545	single nucleotide variant	NM_000559.3(HBG1):c.76G>A (p.Gly26Arg)	Fetal hemoglobin quantitative trait locus 1 [RCV001802527]	likely benign	11	5249729	5249729	Human		name
8564611	CV30048	single nucleotide variant	NM_000559.2(HBG1):c.38C>G (p.Thr13Arg)	HEMOGLOBIN F (CALLUNA) [RCV000016149]	other	11	5249767	5249767	Human		name
8564620	CV30058	single nucleotide variant	NM_000559.2(HBG1):c.68A>G (p.Asp23Gly)	HEMOGLOBIN F (KUALA LUMPUR) [RCV000016159]	other	11	5249737	5249737	Human		name
8564626	CV30065	single nucleotide variant	NM_000559.3(HBG1):c.76G>C (p.Gly26Arg)	HEMOGLOBIN F (XINJIANG) [RCV000016167]	other	11	5249729	5249729	Human		name
8564637	CV30077	single nucleotide variant	HBG1, 4-BP DEL, -222 TO -225, PROMOTER	Fetal hemoglobin, a-gamma type, reduction in [RCV000016182]	pathogenic				Human	1	name
151349612	CV1321463	single nucleotide variant	NM_000559.3(HBG1):c.217G>A (p.Gly73Arg)	Hereditary persistence of fetal hemoglobin [RCV003104143]	likely benign	11	5249466	5249466	Human	1	name
329399298	CV2470031	single nucleotide variant	NM_000559.3(HBG1):c.293A>T (p.His98Leu)	not specified [RCV004287304]	uncertain significance	11	5249390	5249390	Human		name
8564607	CV30044	single nucleotide variant	NM_000559.3(HBG1):c.227C>T (p.Thr76Ile)	HBG1 POLYMORPHISM [RCV000016145]\|HEMOGLOBIN F (SARDINIA) [RCV000030904]\|Hereditary persistence of fetal hemoglobin [RCV002227037]\|not provided [RCV004717905]\|not specified [RCV000455125]	benign\|other	11	5249456	5249456	Human	1	name , trait
8564609	CV30046	single nucleotide variant	NM_000559.2(HBG1):c.161C>A (p.Ala54Asp)	HEMOGLOBIN F (BEECH ISLAND) [RCV000016147]	other	11	5249522	5249522	Human		name
8564610	CV30047	single nucleotide variant	NM_000559.2(HBG1):c.119A>G (p.Gln40Arg)	HEMOGLOBIN F (BONAIRE) [RCV000016148]\|Hereditary persistence of fetal hemoglobin [RCV002227038]	likely benign\|other	11	5249564	5249564	Human	1	name
8564612	CV30049	single nucleotide variant	NM_000559.3(HBG1):c.112T>G (p.Trp38Gly)	HEMOGLOBIN F (COBB) [RCV000016150]	other	11	5249571	5249571	Human		name
8564613	CV30050	single nucleotide variant	NM_000559.2(HBG1):c.238G>A (p.Asp80Asn)	HEMOGLOBIN F (DAMMAM) [RCV000016151]	other	11	5249445	5249445	Human		name
8564614	CV30051	single nucleotide variant	NM_000559.2(HBG1):c.293A>G (p.His98Arg)	HEMOGLOBIN F (DICKINSON) [RCV000016152]	other	11	5249390	5249390	Human		name
8564615	CV30052	single nucleotide variant	NM_000559.2(HBG1):c.220G>A (p.Asp74Asn)	HEMOGLOBIN F (FOREST PARK) [RCV000016153]	other	11	5249463	5249463	Human		name
8564616	CV30053	single nucleotide variant	NM_000559.2(HBG1):c.130G>A (p.Asp44Asn)	HEMOGLOBIN F (FUKUYAMA) [RCV000016154]	other	11	5249553	5249553	Human		name
8564617	CV30054	single nucleotide variant	NM_000559.3(HBG1):c.217G>C (p.Gly73Arg)	HEMOGLOBIN F (IWATA) [RCV000016155]	other	11	5249466	5249466	Human		name
8564619	CV30056	single nucleotide variant	NM_000559.2(HBG1):c.184A>G (p.Lys62Glu)	HEMOGLOBIN F (JAMAICA) [RCV000016157]	other	11	5249499	5249499	Human		name
8564621	CV30059	single nucleotide variant	NM_000559.2(HBG1):c.110C>G (p.Pro37Arg)	HEMOGLOBIN F (PENDERGRASS) [RCV000016160]	other	11	5249573	5249573	Human		name
8564625	CV30064	single nucleotide variant	NM_000559.2(HBG1):c.241G>T (p.Asp81Tyr)	HEMOGLOBIN F (VICTORIA JUBILEE) [RCV000016166]	other	11	5249442	5249442	Human		name
8564627	CV30066	single nucleotide variant	NM_000559.2(HBG1):c.220G>C (p.Asp74His)	HEMOGLOBIN F (XIN-SU) [RCV000016168]	other	11	5249463	5249463	Human		name
8564628	CV30067	single nucleotide variant	NM_000559.2(HBG1):c.241G>A (p.Asp81Asn)	HEMOGLOBIN F (YAMAGUCHI) [RCV000016169]	other	11	5249442	5249442	Human		name
8564636	CV30076	single nucleotide variant	NM_000559.2(HBG1):c.122G>A (p.Arg41Lys)	HEMOGLOBIN F (WOODSTOCK) [RCV000016181]\|Hereditary persistence of fetal hemoglobin [RCV003761736]	likely benign\|other	11	5249561	5249561	Human	1	name
598127503	CV3882705	single nucleotide variant	NM_000559.3(HBG1):c.190C>T (p.His64Tyr)	Hereditary persistence of fetal hemoglobin [RCV005234235]	uncertain significance	11	5249493	5249493	Human	1	name
598265909	CV3971520	single nucleotide variant	NM_000559.3(HBG1):c.224C>A (p.Ala75Asp)	not specified [RCV005349148]	uncertain significance	11	5249459	5249459	Human		name
598265915	CV3971521	single nucleotide variant	NM_000559.3(HBG1):c.175C>A (p.Pro59Thr)	not specified [RCV005349149]	uncertain significance	11	5249508	5249508	Human		name
151349924	CV1321202	single nucleotide variant	NM_000559.3(HBG1):c.377A>C (p.Glu126Ala)	Hereditary persistence of fetal hemoglobin [RCV002227278]\|not specified [RCV004927718]	likely benign\|uncertain significance	11	5248426	5248426	Human	1	name
401735626	CV2695361	single nucleotide variant	NM_000559.3(HBG1):c.425T>C (p.Leu142Pro)	not specified [RCV004305572]	uncertain significance	11	5248378	5248378	Human		name
8564608	CV30045	single nucleotide variant	NM_000559.2(HBG1):c.385G>A (p.Ala129Thr)	HEMOGLOBIN F (BASKENT) [RCV000016146]	other	11	5248418	5248418	Human		name
8564623	CV30062	single nucleotide variant	NM_000559.3(HBG1):c.364G>A (p.Glu122Lys)	Fetal hemoglobin quantitative trait locus 1 [RCV001801846]\|HEMOGLOBIN F (HULL) [RCV000016164]\|HEMOGLOBIN F (SIENA) [RCV000016163]	likely benign\|other	11	5248439	5248439	Human		name
8564632	CV30071	single nucleotide variant	NM_000559.2(HBG1):c.403G>A (p.Val135Met)	HEMOGLOBIN F (JIANGSU) [RCV000016176]	other	11	5248400	5248400	Human		name
405789637	CV3266269	single nucleotide variant	NM_000559.3(HBG1):c.367T>C (p.Phe123Leu)	not specified [RCV004399279]	uncertain significance	11	5248436	5248436	Human		name
152977975	CV38468	single nucleotide variant	NM_000559.3(HBG1):c.410C>G (p.Ala137Gly)	Hereditary persistence of fetal hemoglobin [RCV002227183]\|not provided [RCV004718744]	benign	11	5248393	5248393	Human	1	name

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