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LOVD - Variant listings for HBA1

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364 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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1 HBA1:c.-16T>C - - - - HBA1_00221 HbVar
1 HBA1:c.10T>C - p.Ser4Pro - - HBA1_01567 HbVar
1 HBA1:c.11C>T - p.Ser4Phe - - HBA1_00212 HbVar
1 HBA1:c.16G>C - p.Ala6Pro - - HBA1_00008 HbVar
1 HBA1:c.17C>A - p.Ala6Asp - - HBA1_00007 HbVar
1 HBA1:c.19G>A - p.Asp7Asn - - HBA1_00010 HbVar
1 HBA1:c.19G>C - p.Asp7His - - HBA1_00242 HbVar
1 HBA1:c.19G>T - p.Asp7Tyr - - HBA1_00012 HbVar
1 HBA1:c.19_21delGAC - - - - HBA1_00184 HbVar
1 HBA1:c.1A>G - - - - HBA1_00205 HbVar
1 HBA1:c.20A>C - p.Asp7Ala - - HBA1_00009 HbVar
1 HBA1:c.20A>G - p.Asp7Gly - - HBA1_00013 HbVar
1 HBA1:c.20A>T - p.Asp7Val - - HBA1_00011 HbVar
1 HBA1:c.21C>G - p.Asp7Glu - - HBA1_02129 -
1 HBA1:c.22A>G - p.Lys8Glu - - HBA1_00015 HbVar
1 HBA1:c.24G>C - p.Lys8Asn - - HBA1_00014 HbVar
1 HBA1:c.28A>G - p.Asn10Asp - - HBA1_01890 HbVar
1 HBA1:c.29A>C - p.Asn10Thr - - HBA1_00231 HbVar
1 HBA1:c.29A>G - p.Asn10Ser - - HBA1_00247 HbVar
1 HBA1:c.2T>A
  (Reported 2 times)		 - p.Met1Lys - - HBA1_01965 -
1 HBA1:c.30C>G - p.Asn10Lys - - HBA1_00215 HbVar
1 HBA1:c.34A>C - p.Lys12Gln - - HBA1_00017 HbVar
1 HBA1:c.38C>A - p.Ala13Asp - - HBA1_00019 HbVar
1 HBA1:c.40G>A - p.Ala14Thr - - HBA1_01702 HbVar
1 HBA1:c.40G>C - p.Ala14Pro - - HBA1_00232 HbVar
1 HBA1:c.44G>A - p.Trp15Stop - - HBA1_00240 HbVar
1 HBA1:c.44G>T - p.Trp15Leu - - HBA1_01699 HbVar
1 HBA1:c.46G>C - p.Gly16Arg - - HBA1_00022 HbVar
1 HBA1:c.46G>T - p.Gly16Cys - - HBA1_01688 HbVar
1 HBA1:c.47G>A - p.Gly16Asp - - HBA1_00021 HbVar
1 HBA1:c.4G>T - p.Val2Leu - - HBA1_01573 HbVar
1 HBA1:c.50A>T - p.Lys17Met - - HBA1_00024 HbVar
1 HBA1:c.55G>A - p.Gly19Ser - - HBA1_01895 HbVar
1 HBA1:c.55G>C - p.Gly19Arg - - HBA1_00025 HbVar
1 HBA1:c.55G>T - p.Gly19Cys - - HBA1_01626 HbVar
1 HBA1:c.56G>A - p.Gly19Asp - - HBA1_00026 HbVar
1 HBA1:c.59C>A - p.Ala20Glu - - HBA1_00028 HbVar
1 HBA1:c.5T>A - p.Val2Glu - - HBA1_00183 HbVar
1 HBA1:c.5T>G - p.Val2Gly - - HBA1_00005 HbVar
1 HBA1:c.61C>T - p.His21Tyr - - HBA1_00029 HbVar
1 HBA1:c.62A>C - p.His21Pro - - HBA1_00197 HbVar
1 HBA1:c.62A>G - p.His21Arg - - HBA1_00030 HbVar
1 HBA1:c.62_63insT - - - - HBA1_01703 HbVar
1 HBA1:c.63C>A - p.His21Gln - - HBA1_01604 HbVar
1 HBA1:c.64G>C - p.Ala22Pro - - HBA1_00032 HbVar
1 HBA1:c.65C>A - p.Ala22Asp - - HBA1_00031 HbVar
1 HBA1:c.68G>A - p.Gly23Asp - - HBA1_00033 HbVar
1 HBA1:c.70G>A - p.Glu24Lys - - HBA1_00035 HbVar
1 HBA1:c.70G>C - p.Glu24Gln - - HBA1_00034 HbVar
1 HBA1:c.70G>T - p.Glu24Stop - - HBA1_00220 HbVar
1 HBA1:c.71A>G - p.Glu24Gly - - HBA1_00037 HbVar
1 HBA1:c.71A>T - p.Glu24Val - - HBA1_00036 HbVar
1 HBA1:c.72G>T - p.Glu24Asp - - HBA1_00038 HbVar
1 HBA1:c.73T>C - p.Tyr25His - - HBA1_00039 HbVar
1 HBA1:c.74A>G - p.Tyr25Cys - - HBA1_00040 HbVar
1 HBA1:c.80C>A - p.Ala27Glu - - HBA1_00041 HbVar
1 HBA1:c.82G>A - p.Glu28Lys - - HBA1_00044 HbVar
1 HBA1:c.83A>C - p.Glu28Ala - - HBA1_00233 HbVar
1 HBA1:c.83A>G - p.Glu28Gly - - HBA1_00042 HbVar
1 HBA1:c.83A>T - p.Glu28Val - - HBA1_00043 HbVar
1 HBA1:c.84G>T - p.Glu28Asp - - HBA1_01886 HbVar
1 HBA1:c.85G>A - p.Ala29Thr - - HBA1_01893 HbVar
1 HBA1:c.86C>T - p.Ala29Val - - HBA1_01600 HbVar
1 HBA1:c.88C>G - p.Leu30Val - - HBA1_00252 HbVar
1 HBA1:c.8T>G - p.Leu3Arg - - HBA1_00006 HbVar
1 HBA1:c.91G>A - p.Glu31Lys - - HBA1_00045 HbVar
1 HBA1:c.91G>C - p.Glu31Gln - - HBA1_00046 HbVar
1 HBA1:c.92A>C - p.Glu31Ala - - HBA1_00228 HbVar
1 HBA1:c.92A>T - p.Glu31Val - - HBA1_00227 HbVar
1 HBA1:c.94_95delAG - - - - HBA1_01789 HbVar
1 HBA1:c.95+45G>C - - - - HBA1_01697 HbVar
1 HBA1:c.95+4A>G - - - - HBA1_01816 HbVar
1 HBA1:c.95+5G>A - - - - HBA1_00254 HbVar
1 HBA1:c.95G>C - p.Arg32Thr - - HBA1_01739 HbVar
1 HBA1:c.9_10insCTG - - - - HBA1_01625 HbVar
1 HBA1:c.[36G>C or 36G>T ] - p.Lys12Asn - - HBA1_00018 HbVar
1 HBA1:c.[43T>A or 43T>C ] - p.Trp15Arg - - HBA1_00020 HbVar
1 HBA1:c.[51G>C or 51G>T ] - p.Lys17Asn - - HBA1_00023 HbVar
1 HBA1:p.Ala20Asp - p.Ala20Asp - - HBA1_00027 HbVar
1 HBA1:p.Lys12Glu - p.Lys12Glu - - HBA1_00016 HbVar
1-3 NC_000016.9:g.189300_232500del - - - - HBA1_01543 HbVar
1-3 NC_000016.9:g.197600_229800del - - - - HBA1_01531 HbVar
1-3 NC_000016.9:g.199800_233300del - - - - HBA1_01527 HbVar
1-3 NC_000016.9:g.200000_230000del - - - - HBA1_01535 HbVar
1-3 NC_000016.9:g.200820_232670del - - - - HBA1_01523 HbVar
1-3 NC_000016.9:g.201400_238300del - - - - HBA1_01539 HbVar
1-3 NC_000016.9:g.202450_313800del - - - - HBA1_01519 HbVar
1-2 NC_000016.9:g.204300_227000del - - - - HBA1_01506 HbVar
1-3 NC_000016.9:g.205500_234800del - - - - HBA1_01516 HbVar
1-3 NC_000016.9:g.208100_229000del - - - - HBA1_01510 HbVar
1-3 NC_000016.9:g.208600_232200del - - - - HBA1_01513 HbVar
1-3 NC_000016.9:g.213800_230200del - - - - HBA1_01503 HbVar
1-3 NC_000016.9:g.215400_234700del - - - - HBA1_01501 HbVar
1-3 NC_000016.9:g.218500_231600del - - - - HBA1_01499 HbVar
1-3 NC_000016.9:g.220000_230550del - - - - HBA1_01497 HbVar
1-3 NC_000016.9:g.222000_231400del - - - - HBA1_01495 HbVar
1-2 NC_000016.9:g.223300_227103del - - - - HBA1_01492 HbVar
1-3 NC_000016.9:g.225800_228500del - - - - HBA1_00208 HbVar
1-3 NC_000016.9:g.226600_230100del - - - - HBA1_00209 HbVar
1-2 NG_000006.1:g.32867_38062del - - - - HBA1_01933 HbVar
1 - 100
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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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