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LOVD - Variant listings for HBA1

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365 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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HbVar link Hide HbVar link column Descending
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2 HBA1:c.230T>C - p.Met77Thr - - HBA1_00103 HbVar
2 HBA1:c.230T>G - p.Met77Arg - - HBA1_00236 HbVar
2 HBA1:c.232C>T (or HBA2)
  (Reported 2 times)		 - p.Pro78Ser - - HBA1_01994 -
2 HBA1:c.233C>G - p.Pro78Arg - - HBA1_00104 HbVar
2 HBA1:c.235A>C - p.Asn79His - - HBA1_00107 HbVar
2 HBA1:c.235A>G - p.Asn79Asp - - HBA1_00106 HbVar
2 HBA1:c.238G>A - p.Ala80Thr - - HBA1_00108 HbVar
2 HBA1:c.242T>G - p.Leu81Arg - - HBA1_00109 HbVar
2 HBA1:c.245C>G - p.Ser82Cys - - HBA1_00110 HbVar
2 HBA1:c.247G>A - p.Ala83Thr - - HBA1_00250 HbVar
2 HBA1:c.247_255delGCCCTGAGC - - - - HBA1_00239 HbVar
2 HBA1:c.248C>A - p.Ala83Asp - - HBA1_00111 HbVar
2 HBA1:c.253A>G - p.Ser85Gly - - HBA1_00202 HbVar
2 HBA1:c.256G>A - p.Asp86Asn - - HBA1_00113 HbVar
2 HBA1:c.256G>C - p.Asp86His - - HBA1_00257 HbVar
2 HBA1:c.256G>T - p.Asp86Tyr - - HBA1_00114 HbVar
2 HBA1:c.259C>G - p.Leu87Val - - HBA1_01619 HbVar
2 HBA1:c.260T>G - p.Leu87Arg - - HBA1_00115 HbVar
2 HBA1:c.262C>A - p.His88Asn - - HBA1_00118 HbVar
2 HBA1:c.262C>G - p.His88Asp - - HBA1_00253 HbVar
2 HBA1:c.262C>T - p.His88Tyr - - HBA1_00117 HbVar
2 HBA1:c.263A>C - p.His88Pro - - HBA1_00199 HbVar
2 HBA1:c.263A>G - p.His88Arg - - HBA1_00116 HbVar
2 HBA1:c.263A>T - p.His88Leu - - HBA1_02127 -
2 HBA1:c.264C>G
  (Reported 2 times)		 - p.His88Gln - - HBA1_02050 -
2 HBA1:c.265G>T - p.Ala89Ser - - HBA1_00119 HbVar
2 HBA1:c.266C>A - p.Ala89Glu - - HBA1_01571 HbVar
2 HBA1:c.266C>G - p.Ala89Gly - - HBA1_00121 HbVar
2 HBA1:c.266C>T - p.Ala89Val - - HBA1_00120 HbVar
2 HBA1:c.268C>T - p.His90Tyr - - HBA1_00123 HbVar
2 HBA1:c.269A>C - p.His90Pro - - HBA1_00124 HbVar
2 HBA1:c.269A>G - p.His90Arg - - HBA1_00211 HbVar
2 HBA1:c.269A>T - p.His90Leu - - HBA1_00122 HbVar
2 HBA1:c.270C>G - p.His90Gln - - HBA1_00200 HbVar
2 HBA1:c.271A>C
  (Reported 2 times)		 - p.Lys91Gln - - HBA1_02071 -
2 HBA1:c.271A>G - p.Lys91Glu - - HBA1_01569 HbVar
2 HBA1:c.272A>C - p.Lys91Thr - - HBA1_00126 HbVar
2 HBA1:c.272A>G - p.Lys91Arg - - HBA1_00222 HbVar
2 HBA1:c.272A>T - p.Lys91Met - - HBA1_00127 HbVar
2 HBA1:c.274C>T - p.Leu92Phe - - HBA1_00245 HbVar
2 HBA1:c.275T>C - p.Leu92Pro - - HBA1_00128 HbVar
2 HBA1:c.277C>T - p.Arg93Trp - - HBA1_00130 HbVar
2 HBA1:c.278G>A - p.Arg93Gln - - HBA1_00129 HbVar
2 HBA1:c.278G>T - p.Arg93Leu - - HBA1_00131 HbVar
2 HBA1:c.281T>C - p.Val94Ala - - HBA1_00225 HbVar
2 HBA1:c.283G>A - p.Asp95Asn - - HBA1_00132 HbVar
2 HBA1:c.283_300+3dup - - - - HBA1_01863 HbVar
2 HBA1:c.284A>C - p.Asp95Ala - - HBA1_00135 HbVar
2 HBA1:c.284A>G - p.Asp95Gly - - HBA1_00133 HbVar
2 HBA1:c.285C>G - p.Asp95Glu - - HBA1_00134 HbVar
2 HBA1:c.286C>A - p.Pro96Thr - - HBA1_00139 HbVar
2 HBA1:c.286C>G - p.Pro96Ala - - HBA1_00137 HbVar
2 HBA1:c.286C>T - p.Pro96Ser - - HBA1_00136 HbVar
2 HBA1:c.287C>A - p.Pro96Gln - - HBA1_00201 HbVar
2 HBA1:c.287C>G - p.Pro96Arg - - HBA1_00138 HbVar
2 HBA1:c.289G>C - p.Val97Leu - - HBA1_01628 HbVar
2 HBA1:c.293A>G - p.Asn98Ser - - HBA1_02128 -
2 HBA1:c.296T>A - p.Phe99Tyr - - HBA1_01572 HbVar
2 HBA1:c.298A>G - p.Lys100Glu - - HBA1_00140 HbVar
2 HBA1:c.298A>T - p.Lys100Stop - - HBA1_01817 HbVar
2 HBA1:c.299A>T - p.Lys100Met - - HBA1_01788 HbVar
2 HBA1:c.300G>T - p.Lys100Asn - - HBA1_00226 HbVar
2 HBA1:c.96-1G>A - - - - HBA1_00206 HbVar
2 HBA1:c.96-2A>G - - - - HBA1_01815 HbVar
2 HBA1:c.98T>A - p.Met33Lys - - HBA1_01700 HbVar
2 HBA1:c.98T>C - p.Met33Thr - - HBA1_01889 HbVar
2 HBA1:c.99G>A
  (Reported 2 times)		 - p.Met33Ile - - HBA1_01977 -
2 HBA1:c.[124A>T or 125C>G ] - p.Thr42Ser - - HBA1_00051 HbVar
2 HBA1:c.[171G>T or 171G>C ] - p.Lys57Asn - - HBA1_00071 HbVar
2 HBA1:c.[183G>C or 183G>T ] - p.Lys61Asn - - HBA1_00078 HbVar
2 HBA1:c.[186G>C or 186G>T ] - p.Lys62Asn - - HBA1_00080 HbVar
2 HBA1:c.[207C>G or 207C>A] - p.Asn69Lys - - HBA1_00087 HbVar
2 HBA1:c.[255C>G or 253A>C or 255C>A ] - p.Ser85Arg - - HBA1_00112 HbVar
2 HBA1:c.[258C>A or 258C>G ] - p.Asp86Glu - - HBA1_01734 HbVar
2 HBA1:c.[96G>C or 96G>T ] - p.Arg32Ser - - HBA1_00047 HbVar
2 HBA1:p.Leu87_His88insSerAspLeu - p.Leu87_His88insSerAspLeu - - HBA1_00194 HbVar
2 HBA1:p.[Gln55His or Gln55His ] - p.Gln55His - - HBA1_01733 HbVar
2 HBA2:c.273G>T or HBA1:c.273G>C - p.Lys91Asn - - HBA1_00125 HbVar
3 HBA1:c.*96G>A - - - - HBA1_01620 HbVar
3 HBA1:c.301C>T - p.Leu101Phe - - HBA1_01883 HbVar
3 HBA1:c.302T>C - p.Leu101Pro - - HBA1_01762 HbVar
3 HBA1:c.307A>C - p.Ser103Arg - - HBA1_01888 HbVar
3 HBA1:c.309C>A - p.Ser103Arg - - HBA1_00214 HbVar
3 HBA1:c.310C>G - p.His104Asp - - HBA1_01859 HbVar
3 HBA1:c.310C>T - p.His104Tyr - - HBA1_00193 HbVar
3 HBA1:c.311A>G - p.His104Arg - - HBA1_00141 HbVar
3 HBA1:c.313T>A - p.Cys105Ser - - HBA1_00229 HbVar
3 HBA1:c.315C>G - p.Cys105Trp - - HBA1_01621 HbVar
3 HBA1:c.320T>C - p.Leu107Pro - - HBA1_01570 HbVar
3 HBA1:c.326C>A - p.Thr109Asn - - HBA1_01891 HbVar
3 HBA1:c.328delC - - - - HBA1_01622 HbVar
3 HBA1:c.329T>C
  (Reported 2 times)		 - p.Leu110Pro - - HBA1_01997 -
3 HBA1:c.331G>A - p.Ala111Thr - - HBA1_00143 HbVar
3 HBA1:c.332C>A - p.Ala111Asp - - HBA1_00142 HbVar
3 HBA1:c.332C>T
  (Reported 2 times)		 - p.Ala111Val - - HBA1_01602 HbVar
3 HBA1:c.333_345delCGCCCACCTCCCC - - - - HBA1_01623 HbVar
3 HBA1:c.334G>A - p.Ala112Thr - - HBA1_00144 HbVar
3 HBA1:c.337C>G - p.His113Asp - - HBA1_00145 HbVar
3 HBA1:c.338A>G - p.His113Arg - - HBA1_00146 HbVar
3 HBA1:c.339C>A - p.His113Gln - - HBA1_01698 HbVar
201 - 300
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Legend: [ HBA1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link

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