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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
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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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3 HBA1:c.341T>A - p.Leu114His - - HBA1_00147 HbVar
3 HBA1:c.343C>G - p.Pro115Ala - - HBA1_01603 HbVar
3 HBA1:c.343C>T - p.Pro115Ser - - HBA1_00150 HbVar
3 HBA1:c.344C>A
  (Reported 2 times)		 - p.Pro115His - - HBA1_02023 -
3 HBA1:c.344C>G - p.Pro115Arg - - HBA1_00148 HbVar
3 HBA1:c.344C>T - p.Pro115Leu - - HBA1_00149 HbVar
3 HBA1:c.347C>A - p.Ala116Asp - - HBA1_00151 HbVar
3 HBA1:c.347C>T - p.Ala116Val - - HBA1_01617 HbVar
3 HBA1:c.349G>A - p.Glu117Lys - - HBA1_00152 HbVar
3 HBA1:c.349G>C - p.Glu117Gln - - HBA1_00154 HbVar
3 HBA1:c.350A>C - p.Glu117Ala - - HBA1_00153 HbVar
3 HBA1:c.354_355insTCA
  (Reported 2 times)		 - - - - HBA1_01995 -
3 HBA1:c.358C>T - p.Pro120Ser - - HBA1_00216 HbVar
3 HBA1:c.359C>T - p.Pro120Leu - - HBA1_00191 HbVar
3 HBA1:c.362C>A - p.Ala121Glu - - HBA1_00155 HbVar
3 HBA1:c.364G>A - p.Val122Met - - HBA1_00156 HbVar
3 HBA1:c.367C>T - p.His123Tyr - - HBA1_00210 HbVar
3 HBA1:c.370G>C - p.Ala124Pro - - HBA1_00251 HbVar
3 HBA1:c.370G>T - p.Ala124Ser - - HBA1_00157 HbVar
3 HBA1:c.371C>T - p.Ala124Val - - HBA1_01935 HbVar
3 HBA1:c.374C>G - p.Ser125Cys - - HBA1_01887 HbVar
3 HBA1:c.374C>T - p.Ser125Phe - - HBA1_01763 HbVar
3 HBA1:c.377T>C - p.Leu126Pro - - HBA1_01773 HbVar
3 HBA1:c.379G>A - p.Asp127Asn - - HBA1_00158 HbVar
3 HBA1:c.379G>C - p.Asp127His - - HBA1_00159 HbVar
3 HBA1:c.379G>T - p.Asp127Tyr - - HBA1_00161 HbVar
3 HBA1:c.380A>C - p.Asp127Ala - - HBA1_01745 HbVar
3 HBA1:c.380A>G - p.Asp127Gly - - HBA1_00162 HbVar
3 HBA1:c.380A>T - p.Asp127Val - - HBA1_00160 HbVar
3 HBA1:c.381C>G - p.Asp127Glu - - HBA1_00203 HbVar
3 HBA1:c.382A>G
  (Reported 2 times)		 - p.Lys128Glu - - HBA1_02025 -
3 HBA1:c.383A>C - p.Lys128Thr - - HBA1_00163 HbVar
3 HBA1:c.389T>C - p.Leu130Pro - - HBA1_00165 HbVar
3 HBA1:c.392C>T - p.Ala131Val - - HBA1_00238 HbVar
3 HBA1:c.394T>C - p.Ser132Pro - - HBA1_00166 HbVar
3 HBA1:c.395C>T - p.Ser132Phe - - HBA1_00224 HbVar
3 HBA1:c.396delT - - - - HBA1_00255 HbVar
3 HBA1:c.396_397insT - - - - HBA1_00218 HbVar
3 HBA1:c.397G>A - p.Val133Met - - HBA1_01618 HbVar
3 HBA1:c.398T>G - p.Val133Gly - - HBA1_00167 HbVar
3 HBA1:c.401G>A - p.Ser134Asn - - HBA1_00169 HbVar
3 HBA1:c.405delC - - - - HBA1_00256 HbVar
3 HBA1:c.406G>A - p.Val136Met - - HBA1_00241 HbVar
3 HBA1:c.407T>A - p.Val136Glu - - HBA1_00170 HbVar
3 HBA1:c.410T>G - p.Leu137Arg - - HBA1_00171 HbVar
3 HBA1:c.412A>C - p.Thr138Pro - - HBA1_00258 HbVar
3 HBA1:c.415T>C - p.Ser139Pro - - HBA1_00172 HbVar
3 HBA1:c.415T>G - p.Ser139Ala - - HBA1_02125 -
3 HBA1:c.416C>G - p.Ser139Cys - - HBA1_00246 HbVar
3 HBA1:c.418A>G - p.Lys140Glu - - HBA1_00174 HbVar
3 HBA1:c.419A>C - p.Lys140Thr - - HBA1_00173 HbVar
3 HBA1:c.420delA - - - - HBA1_00182 HbVar
3 HBA1:c.421T>C - p.Tyr141His - - HBA1_00175 HbVar
3 HBA1:c.424C>A - p.Arg142Ser - - HBA1_00178 HbVar
3 HBA1:c.424C>G - p.Arg142Gly - - HBA1_00180 HbVar
3 HBA1:c.424C>T - p.Arg142Cys - - HBA1_00181 HbVar
3 HBA1:c.425G>A - p.Arg142His - - HBA1_00177 HbVar
3 HBA1:c.425G>C - p.Arg142Pro - - HBA1_00176 HbVar
3 HBA1:c.425G>T - p.Arg142Leu - - HBA1_00179 HbVar
3 HBA1:c.[384G>T or 384G>C ] - p.Lys128Asn - - HBA1_00164 HbVar
3 HBA1:c.[404C>G or 403A>T ] - p.Thr135Ser - - HBA1_01575 HbVar
3 HBA1:p.Glu117_Phe118insHisLeuProAlaGlu - p.Glu117_Phe118insHisLeuProAlaGlu - - HBA1_00188 HbVar
3 HBA1:p.Phe118_Thr119insI - p.Phe118_Thr119insIle - - HBA1_00189 HbVar
3 HBA1:p.Ser134Arg - p.Ser134Arg - - HBA1_00168 HbVar
3 HBA1:p.Thr119_Pro120insGluPheThr - p.Thr119_Pro120insGluPheThr - - HBA1_00190 HbVar
301 - 365
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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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