HFE homeostatic iron regulator

Annotation transcript: NM_000410.4

203 unique variant annotations were identified in 466 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-26087670-T-A c.2T>A p.M1? Missense 1/6 - 1
6-26087676-C-A c.8C>A p.P3Q Missense 1/6 - 1
6-26087684-CAGGCCGGCGCT-C c.16_26del p.R6Sfs*39 Frameshift 1/6 - 1
6-26087686-G-C c.18G>C p.R6S Missense 1/6 - 2
6-26087686-G-T c.18G>T p.R6S Missense 1/6 - 1
6-26087697-T-C c.29T>C p.L10P Missense 1/6 - 1
6-26087708-C-T c.40C>T p.L14F Missense 1/6 - 1
6-26087718-C-T c.50C>T p.T17I Missense 1/6 - 3
6-26087720-GCG-TGT c.52_54delinsTGT p.A18C Missense 1/6 - 1
6-26087732-GGG-AAC c.64_66delinsAAC p.G22N Missense 1/6 - 1
6-26087856-T-A c.76+112T>A - IntronicSNV - 1/5 1
6-26088407-A-G c.76+663A>G - IntronicSNV - 1/5 1
6-26088890-T-C c.76+1146T>C - IntronicSNV - 1/5 4
6-26088890-T-G c.76+1146T>G - IntronicSNV - 1/5 4
6-26089098-C-T c.76+1354C>T - IntronicSNV - 1/5 6
6-26090381-C-G c.77-688C>G - IntronicSNV - 1/5 1
6-26091070-T-A c.78T>A p.R26= Synonymous 2/6 - 1
6-26091070-T-C c.78T>C p.R26= Synonymous 2/6 - 1
6-26091070-T-G c.78T>G p.R26= Synonymous 2/6 - 1
6-26091081-T-A c.89T>A p.L30Q Missense 2/6 - 1
6-26091080-C-T c.88C>T p.L30= Synonymous 2/6 - 1
6-26091082-G-A c.90G>A p.L30= Synonymous 2/6 - 1
6-26091082-G-C c.90G>C p.L30= Synonymous 2/6 - 1
6-26091082-G-T c.90G>T p.L30= Synonymous 2/6 - 1
6-26091090-T-C c.98T>C p.L33P Missense 2/6 - 1
6-26091101-G-A c.109G>A p.A37T Missense 2/6 - 1
6-26091101-GC-TG c.109_110delinsTG p.A37C Missense 2/6 - 1
6-26091104-T-G c.112T>G p.S38A Missense 2/6 - 1
6-26091110-C-G c.118C>G p.Q40E Missense 2/6 - 1
6-26091120-G-A c.128G>A p.G43D Missense 2/6 - 1
6-26091120-G-C c.128G>C p.G43A Missense 2/6 - 1
6-26091129-T-G c.137T>G p.L46W Missense 2/6 - 2
6-26091143-G-T c.151G>T p.G51C Missense 2/6 - 2
6-26091149-G-A c.157G>A p.V53M Missense 2/6 - 12
6-26091167-G-A c.175G>A p.V59M Missense 2/6 - 12
6-26091176-G-A c.184G>A p.D62N Missense 2/6 - 1
6-26091178-T-G c.186T>G p.D62E Missense 2/6 - 1
6-26091179-CA-GC c.187_188delinsGC p.H63A Missense 2/6 - 4
6-26091179-C-G c.187C>G p.H63D Missense 2/6 - 942
6-26091179-C-T c.187C>T p.H63Y Missense 2/6 - 102
6-26091181-T-C c.189T>C p.H63= Synonymous 2/6 - 15
6-26091184-G-C c.192G>C p.E64D Missense 2/6 - 1
6-26091184-G-T c.192G>T p.E64D Missense 2/6 - 1
6-26091185-AG-CT c.193_194inv p.S65L Missense 2/6 - 1
6-26091185-AG-GA c.193_194delinsGA p.S65D Missense 2/6 - 3
6-26091185-A-T c.193A>T p.S65C Missense 2/6 - 147
6-26091187-T-C c.195T>C p.S65= Synonymous 2/6 - 1
6-26091188-C-T c.196C>T p.R66C Missense 2/6 - 1
6-26091191-C-T c.199C>T p.R67C Missense 2/6 - 2
6-26091203-CGA-TGT c.211_213delinsTGT p.R71C Missense 2/6 - 1
6-26091203-C-T c.211C>T p.R71* Nonsense 2/6 - 3
6-26091228-T-A c.236T>A p.I79N Missense 2/6 - 2
6-26091236-C-G c.244C>G p.Q82E Missense 2/6 - 1
6-26091255-G-C c.263G>C p.S88T Missense 2/6 - 1
6-26091268-A-C c.276A>C p.K92N Missense 2/6 - 1
6-26091268-A-T c.276A>T p.K92N Missense 2/6 - 1
6-26091269-G-A c.277G>A p.G93R Missense 2/6 - 5
6-26091269-G-C c.277G>C p.G93R Missense 2/6 - 7
6-26091269-GGG-TGT c.277_279delinsTGT p.G93C Missense 2/6 - 1
6-26091270-G-C c.278G>C p.G93A Missense 2/6 - 12
6-26091270-GG-AC c.278_279delinsAC p.G93D Missense 2/6 - 3
6-26091273-G-A c.281G>A p.W94* Nonsense 2/6 - 1
6-26091273-G-T c.281G>T p.W94L Missense 2/6 - 1
6-26091274-G-A c.282G>A p.W94* Nonsense 2/6 - 1
6-26091286-C-A c.294C>A p.F98L Missense 2/6 - 1
6-26091291-T-C c.299T>C p.V100A Missense 2/6 - 1
6-26091294-A-G c.302A>G p.D101G Missense 2/6 - 1
6-26091297-TC-GG c.305_306delinsGG p.F102W Missense 2/6 - 1
6-26091305-A-G c.313A>G p.I105V Missense 2/6 - 1
6-26091306-T-C c.314T>C p.I105T Missense 2/6 - 7
6-26091327-G-A c.335G>A p.S112N Missense 2/6 - 1
6-26091332-G-A c.340G>A p.E114K Missense 2/6 - 2
6-26091330-A-AG c.340+1dup - SpliceDonorInsertion - 2/5 1
6-26091336-T-C c.340+4T>C - IntronicSNV - 2/5 12
6-26091544-GT-G c.343del p.S115Pfs*96 Frameshift 3/6 - 1
6-26091568-GG-TT c.367_368delinsTT p.G123F Missense 3/6 - 1
6-26091574-G-A c.373G>A p.E125K Missense 3/6 - 1
6-26091582-A-C c.381A>C p.Q127H Missense 3/6 - 12
6-26091582-A-T c.381A>T p.Q127H Missense 3/6 - 10
6-26091586-G-A c.385G>A p.D129N Missense 3/6 - 2
6-26091615-C-A c.414C>A p.Y138* Nonsense 3/6 - 2
6-26091615-C-G c.414C>G p.Y138* Nonsense 3/6 - 2
6-26091637-C-T c.436C>T p.L146F Missense 3/6 - 1
6-26091643-TT-GC c.442_443delinsGC p.F148A Missense 3/6 - 1
6-26091649-C-T c.448C>T p.P150S Missense 3/6 - 1
6-26091661-G-A c.460G>A p.D154N Missense 3/6 - 1
6-26091667-AGA-CAT c.466_468delinsCAT p.R156H Missense 3/6 - 1
6-26091667-AGA-TGT c.466_468delinsTGT p.R156C Missense 3/6 - 1
6-26091672-CA-C c.471del p.A158Qfs*53 Frameshift 3/6 - 1
6-26091685-G-A c.484G>A p.A162T Missense 3/6 - 1
6-26091698-A-G c.497A>G p.K166R Missense 3/6 - 1
6-26091701-TGGA-T c.502_504del p.E168del InFrameDeletion 3/6 - 1
6-26091703-G-C c.502G>C p.E168Q Missense 3/6 - 12
6-26091703-G-T c.502G>T p.E168* Nonsense 3/6 - 12
6-26091706-T-C c.505T>C p.W169R Missense 3/6 - 1
6-26091707-G-A c.506G>A p.W169* Nonsense 3/6 - 8
6-26091708-G-A c.507G>A p.W169* Nonsense 3/6 - 8
6-26091728-C-T c.527C>T p.A176V Missense 3/6 - 1
6-26091733-C-T c.532C>T p.Q178* Nonsense 3/6 - 1
6-26091740-G-A c.539G>A p.R180K Missense 3/6 - 1
6-26091742-GCCTA-G c.545_548del p.Y182Wfs*28 Frameshift 3/6 - 1
6-26091749-T-C c.548T>C p.L183P Missense 3/6 - 2
6-26091760-T-G c.559T>G p.C187G Missense 3/6 - 8
6-26091769-C-T c.568C>T p.Q190* Nonsense 3/6 - 1
6-26091776-A-G c.575A>G p.Q192R Missense 3/6 - 2
6-26091776-A-T c.575A>T p.Q192L Missense 3/6 - 3
6-26091782-T-C c.581T>C p.L194S Missense 3/6 - 1
6-26091800-G-T c.599G>T p.G200V Missense 3/6 - 1
6-26091806-TG-T c.607del p.D203Tfs*8 Frameshift 3/6 - 1
6-26092170-G-T c.616+353G>T - IntronicSNV - 3/5 5
6-26092865-C-G c.617-48C>G - IntronicSNV - 3/5 2
6-26092865-C-T c.617-48C>T - IntronicSNV - 3/5 2
6-26092948-TC-GA c.652_653inv p.S218D Missense 4/6 - 1
6-26092966-C-G c.670C>G p.R224G Missense 4/6 - 1
6-26092966-C-T c.670C>T p.R224W Missense 4/6 - 1
6-26092972-C-G c.676C>G p.R226G Missense 4/6 - 2
6-26092985-A-T c.689A>T p.Y230F Missense 4/6 - 1
6-26092981-AACT-A c.691_693del p.Y231del InFrameDeletion 4/6 - 1
6-26092989-C-A c.693C>A p.Y231* Nonsense 4/6 - 1
6-26092989-C-G c.693C>G p.Y231* Nonsense 4/6 - 1
6-26092992-C-A c.696C>A p.P232= Synonymous 4/6 - 1
6-26092992-C-G c.696C>G p.P232= Synonymous 4/6 - 1
6-26092992-C-T c.696C>T p.P232= Synonymous 4/6 - 1
6-26092993-C-T c.697C>T p.Q233* Nonsense 4/6 - 1
6-26092995-GAAC-G c.701_703del p.N234del InFrameDeletion 4/6 - 1
6-26093008-A-T c.712A>T p.K238* Nonsense 4/6 - 1
6-26093009-AGTG-A c.715_717del p.W239del InFrameDeletion 4/6 - 1
6-26093012-G-A c.716G>A p.W239* Nonsense 4/6 - 1
6-26093022-T-C c.726T>C p.D242= Synonymous 4/6 - 1
6-26093038-G-T c.742G>T p.A248S Missense 4/6 - 1
6-26093043-G-A c.747G>A p.K249= Synonymous 4/6 - 1
6-26093050-G-A c.754G>A p.E252K Missense 4/6 - 1
6-26093055-TA-T c.762del p.D255Tfs*14 Frameshift 4/6 - 1
6-26093059-G-T c.763G>T p.D255Y Missense 4/6 - 1
6-26093062-G-A c.766G>A p.V256I Missense 4/6 - 2
6-26093110-G-C c.814G>C p.V272L Missense 4/6 - 2
6-26093110-G-T c.814G>T p.V272L Missense 4/6 - 2
6-26093125-G-A c.829G>A p.E277K Missense 4/6 - 3
6-26093132-G-A c.836G>A p.R279K Missense 4/6 - 1
6-26093138-C-A c.842C>A p.T281K Missense 4/6 - 1
6-26093138-C-T c.842C>T p.T281M Missense 4/6 - 1
6-26093139-G-A c.843G>A p.T281= Synonymous 4/6 - 2
6-26093139-G-C c.843G>C p.T281= Synonymous 4/6 - 1
6-26093139-G-T c.843G>T p.T281= Synonymous 4/6 - 1
6-26093140-T-A c.844T>A p.C282S Missense 4/6 - 1
6-26093140-TG-AC c.844_845delinsAC p.C282T Missense 4/6 - 3
6-26093141-G-C c.845G>C p.C282S Missense 4/6 - 1
6-26093141-G-A c.845G>A p.C282Y Missense 4/6 - 1357
6-26093142-C-T c.846C>T p.C282= Synonymous 4/6 - 1
6-26093144-A-C c.848A>C p.Q283P Missense 4/6 - 15
6-26093146-G-A c.850G>A p.V284M Missense 4/6 - 1
6-26093161-C-T c.865C>T p.L289= Synonymous 4/6 - 1
6-26093163-G-A c.867G>A p.L289= Synonymous 4/6 - 1
6-26093163-G-C c.867G>C p.L289= Synonymous 4/6 - 1
6-26093163-G-T c.867G>T p.L289= Synonymous 4/6 - 1
6-26093167-C-G c.871C>G p.Q291E Missense 4/6 - 1
6-26093180-T-A c.884T>A p.V295E Missense 4/6 - 1
6-26093180-T-C c.884T>C p.V295A Missense 4/6 - 3
6-26093186-G-A c.890G>A p.W297* Nonsense 4/6 - 1
6-26093187-G-A c.891G>A p.W297* Nonsense 4/6 - 1
6-26093236-G-A c.892+48G>A - IntronicSNV - 4/5 3
6-26093297-G-A c.893-50G>A - IntronicSNV - 4/5 1
6-26093303-T-C c.893-44T>C - IntronicSNV - 4/5 3
6-26093348-G-C c.894G>C p.E298D Missense 5/6 - 1
6-26093348-G-T c.894G>T p.E298D Missense 5/6 - 2
6-26093355-C-T c.901C>T p.P301S Missense 5/6 - 1
6-26093356-C-T c.902C>T p.P301L Missense 5/6 - 2
6-26093376-GGA-TGT c.922_924delinsTGT p.G308C Missense 5/6 - 1
6-26093377-G-A c.923G>A p.G308E Missense 5/6 - 1
6-26093380-T-C c.926T>C p.V309A Missense 5/6 - 1
6-26093385-A-T c.931A>T p.S311C Missense 5/6 - 1
6-26093394-G-C c.940G>C p.A314P Missense 5/6 - 1
6-26093395-C-T c.941C>T p.A314V Missense 5/6 - 1
6-26093396-T-A c.942T>A p.A314= Synonymous 5/6 - 1
6-26093396-T-C c.942T>C p.A314= Synonymous 5/6 - 1
6-26093396-T-G c.942T>G p.A314= Synonymous 5/6 - 1
6-26093401-T-G c.947T>G p.F316C Missense 5/6 - 1
6-26093422-G-T c.968G>T p.G323V Missense 5/6 - 2
6-26093433-AT-GC c.979_980delinsGC p.I327A Missense 5/6 - 2
6-26093440-T-A c.986T>A p.L329* Nonsense 5/6 - 1
6-26093440-T-G c.986T>G p.L329* Nonsense 5/6 - 1
6-26093443-G-C c.989G>C p.R330T Missense 5/6 - 1
6-26093443-G-T c.989G>T p.R330M Missense 5/6 - 4
6-26093446-A-G c.992A>G p.K331R Missense 5/6 - 1
6-26093457-TCA-ATG c.1003_1005delinsATG p.S335M Missense 5/6 - 1
6-26093457-T-G c.1003T>G p.S335A Missense 5/6 - 1
6-26094026-G-A c.1007-388G>A - IntronicSNV - 5/5 7
6-26094026-G-C c.1007-388G>C - IntronicSNV - 5/5 7
6-26094026-G-T c.1007-388G>T - IntronicSNV - 5/5 7
6-26094367-G-A c.1007-47G>A - IntronicSNV - 5/5 8
6-26094367-G-T c.1007-47G>T - IntronicSNV - 5/5 8
6-26094428-CAC-TAA c.1021_1023delinsTAA p.H341* Nonsense 6/6 - 1
6-26094426-GGCACTACGTCTTA-G c.1022_1034del p.H341Lfs*119 Frameshift 6/6 - 1
6-26094432-A-G c.1025A>G p.Y342C Missense 6/6 - 2
6-26094432-A-T c.1025A>T p.Y342F Missense 6/6 - 1
6-26094447-G-A c.1040G>A p.R347H Missense 6/6 - 1
6-26095931-G-A c.*1477G>A - IntergenicSNV 6/6 - 6
6-26095931-G-T c.*1477G>T - IntergenicSNV 6/6 - 6
6-26096748-G-C c.*2294G>C - IntergenicSNV 6/6 - 5
6-26097046-T-C c.*2592T>C - IntergenicSNV 6/6 - 1
6-26097194-G-A c.*2740G>A - IntergenicSNV 6/6 - 5
6-26097384-T-C c.*2930T>C - IntergenicSNV 6/6 - 6
6-26098474-T-C c.*4020T>C - IntergenicSNV 6/6 - 2