LOVD - Variant listings for HBG1

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55 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
Ascending

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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1 HBG1:c.-114C>G - - - - HBG1_01966 -
1 HBG1:c.-167C>T - - - - HBG1_00662 HbVar
1 HBG1:c.-167_-155delCAATAGCCTTGAC - - - - HBG1_00663 HbVar
1 HBG1:c.-170G>A
  (Reported 2 times)
- - - - HBG1_00660 HbVar
1 HBG1:c.-211C>T - - - - HBG1_00667 HbVar
1 HBG1:c.-228T>C - - - - HBG1_00659 HbVar
1 HBG1:c.-248C>G - - - - HBG1_00658 HbVar
1 HBG1:c.-249C>T - - - - HBG1_00657 HbVar
1 HBG1:c.-250C>T - - - - HBG1_01651 HbVar
1 HBG1:c.-251T>C - - - - HBG1_00656 HbVar
1 HBG1:c.-255C>T - - - - HBG1_00655 HbVar
1 HBG1:c.-264C>T - - - - HBG1_00668 HbVar
1 HBG1:c.16G>A - p.Glu6Lys - - HBG1_00626 HbVar
1 HBG1:c.19G>A - p.Glu7Lys - - HBG1_00646 HbVar
1 HBG1:c.19G>C - p.Glu7Gln - - HBG1_00628 HbVar
1 HBG1:c.20A>G - p.Glu7Gly - - HBG1_00627 HbVar
1 HBG1:c.38C>A - p.Thr13Lys - - HBG1_00647 HbVar
1 HBG1:c.38C>G - p.Thr13Arg - - HBG1_00629 HbVar
1 HBG1:c.50G>A - p.Gly17Asp - - HBG1_01990 -
1 HBG1:c.67G>A - p.Asp23Asn - - HBG1_01590 HbVar
1 HBG1:c.68A>G - p.Asp23Gly - - HBG1_00630 HbVar
1 HBG1:c.70_72delGCT - - - - HBG1_00649 HbVar
1 HBG1:c.76G>C - p.Gly26Arg - - HBG1_00650 HbVar
1 HBG1:c.89G>A - p.Gly30Glu - - HBG1_01991 -
1 HBG1:c.9T>G - p.His3Gln - - HBG1_00625 HbVar
2 HBG1:c.110C>G - p.Pro37Arg - - HBG1_00631 HbVar
2 HBG1:c.112T>G - p.Trp38Gly - - HBG1_00632 HbVar
2 HBG1:c.119A>G - p.Gln40Arg - - HBG1_00633 HbVar
2 HBG1:c.122G>A - p.Arg41Lys - - HBG1_00634 HbVar
2 HBG1:c.130G>A - p.Asp44Asn - - HBG1_00651 HbVar
2 HBG1:c.161C>A - p.Ala54Asp - - HBG1_00635 HbVar
2 HBG1:c.184A>G - p.Lys62Glu - - HBG1_00636 HbVar
2 HBG1:c.217G>C - p.Gly73Arg - - HBG1_00637 HbVar
2 HBG1:c.220G>A - p.Asp74Asn - - HBG1_00652 HbVar
2 HBG1:c.220G>C - p.Asp74His - - HBG1_00638 HbVar
2 HBG1:c.238G>A - p.Asp80Asn - - HBG1_00640 HbVar
2 HBG1:c.241G>A - p.Asp81Asn - - HBG1_00653 HbVar
2 HBG1:c.241G>T - p.Asp81Tyr - - HBG1_00641 HbVar
2 HBG1:c.275T>G - p.Leu92Arg - - HBG1_01774 HbVar
2 HBG1:c.293A>G - p.His98Arg - - HBG1_00642 HbVar
2 HBG1:c.304G>A - p.Glu102Lys - - HBG1_02088 -
2-3 HBG1:c.[241G>A ;410C>G] - p.Ala137Gly - - HBG1_02067 -
2 U01317.1(HBG1):c.227T>C - p.Ile76Thr - - HBG1_00639 HbVar
3 HBG1:c.327T>A - p.Asn109Lys - - HBG1_00648 HbVar
3 HBG1:c.340G>A - p.Val114Ile - - HBG1_02032 -
3 HBG1:c.358G>A - p.Gly120Ser - - HBG1_01714 HbVar
3 HBG1:c.364G>A
  (Reported 2 times)
- p.Glu122Lys - - HBG1_00643 HbVar
3 HBG1:c.364G>C - p.Glu122Gln - - HBG1_00664 HbVar
3 HBG1:c.365A>T - p.Glu122Val - - HBG1_01727 HbVar
3 HBG1:c.377A>C
  (Reported 2 times)
- p.Glu126Ala - - HBG1_01780 HbVar
3 HBG1:c.385G>A - p.Ala129Thr - - HBG1_00644 HbVar
3 HBG1:c.396G>T - p.Gln132His - - HBG1_01589 HbVar
3 HBG1:c.403G>A - p.Val135Met - - HBG1_00645 HbVar
3 HBG1:c.409G>T - p.Ala137Ser - - HBG1_00666 HbVar
3 HBG1:c.410C>G - p.Ala137Gly - - HBG1_00665 HbVar
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Legend: [ HBG1 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. HBG1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link