LOVD - Variant listings for AIRE

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+/? AIRE_00001 - Stolarski 2006 g.45705890A>T 01 g.5128A>T g.4707A>T - r.? p.0? ATG>TTG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00002 - Faiyaz-Ul-Haque 2009 g.45705890A 01 g.5128A>G g.4707A>G - r.? p.0? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00003 - Orlova 2010 g.45705891T>C 01 g.5129T>C g.4708T>C - r.? p.0? ATG>ACG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00004 - Podkrajsek 2008 g.45705910_45705932dup 01 g.5148_5170dup g.4727_4749dup - r.? p.Arg15Hisfs*5 CGC>CAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00005 - Wolff 2007 g.45705911C>T 01 g.5149C>T g.4728C>T - r.? p.(Arg8Cys) CGC>TGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00006 - Sato 2002 g.45705932C>T 01 g.5170C>T g.4749C>T - r.? p.(Arg15Cys) CGC>TGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00007 - Pearce 1998 g.45705933G>T 01 g.5171G>T g.4750G>T - r.? p.(Arg15Leu) CGC>CTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Cihakova 2001 g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00009 - Liu 2010 g.45705944G>A 01 g.5182G>A g.4761G>A - r.? p.(Ala19Thr) GCG>ACG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00010 - Podkrajsek 2008 g.45705951C>T 01 g.5189C>T g.4768C>T - r.? p.(Ala21Val) GCC>GTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00011 - Meloni 2005 g.45705953_45705958del 01 g.5191_5196del g.4770_4775del - r.? p.(Val22_Asp23del) GCC GTG GAC AGC > GCC AGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00170 - Podkrajsek 2008 g.(?_45705857)_(45717524_?)del 1E g.(?_5195)_(16762_?)del g.(?_4674)_(16341_?)del - r.? p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00013 - Pearce 1998 g.45705972T>C 01 g.5210T>C g.4789T>C - r.? p.(Leu28Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00014 - Kogawa 2002 Clin Immunol g.45705975T>C 01 g.5213T>C g.4792T>C - r.? p.(Leu29Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00015 - Faiyaz-Ul-Haque 2009 g.45705982_45705983insT 01 g.5220_5221insT g.4799_4800insT - r.? p.(Leu32Serfs*3) CTG>TCT - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00123 - Freisinger 2005 Horm Res g.45706022G>C 01i g.5260G>C g.4839G>C - r.spl p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00124 - Stolarski 2006 g.[45706022G>C; 45706026del] 01i g.[5260G>C; 5264del] g.[4839G>C; 4843del] - r.spl? p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00171 - Cihakova 2001 g.(45706021+1)_(45707474+?)del 01i g.(5259+?)_(6712+?)del g.(4838+?)_(6291+?)del - r.? p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00135 - Scott et al. [1998] g.45705952C>T 01 g.5190C>T g.4769C>T - r.? p.Ala21 (silent) - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Podkrajsek 2005 g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00013 - Heino 1999 g.45705972T>C 01 g.5210T>C g.4789T>C - r.? p.(Leu28Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00199 - Lovewell et al. [2006] g.45705362G>A 01 g.4600G>A g.4179G>A - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00004 - Toth 2010 g.45705910_45705932dup 01 g.5148_5170dup g.4727_4749dup - r.? p.Arg15Hisfs*5 CGC>CAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00211 - Lovewell et al. [2006] g.45705787C>T 01 g.5025C>T g.4604C>T - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00010 - Halonen 2002 g.45705951C>T 01 g.5189C>T g.4768C>T - r.? p.(Ala21Val) GCC>GTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Orlova 2010 g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00124 - Capalbo 2009 Horm Res g.[45706022G>C; 45706026del] 01i g.[5260G>C; 5264del] g.[4839G>C; 4843del] - r.spl? p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Mazza 2011 g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Capalbo 2009 Horm Res g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00460 - Cihakova 2001 - 1i_4i - - - - - - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00008 - Valenzise 2010 Horm Res Paediatr g.45705936C>T 01 g.5174C>T g.4753C>T - r.? p.(Thr16Met) ACG>ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00124 - Mazza 2011 g.[45706022G>C; 45706026del] 01i g.[5260G>C; 5264del] g.[4839G>C; 4843del] - r.spl? p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00010 - Mazza 2011 g.45705951C>T 01 g.5189C>T g.4768C>T - r.? p.(Ala21Val) GCC>GTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00004 - Podkrajsek 2005 g.45705910_45705932dup 01 g.5148_5170dup g.4727_4749dup - r.? p.Arg15Hisfs*5 CGC>CAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00010 - Capalbo 2009 Horm Res g.45705951C>T 01 g.5189C>T g.4768C>T - r.? p.(Ala21Val) GCC>GTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00004 - Cihakova 2001 g.45705910_45705932dup 01 g.5148_5170dup g.4727_4749dup - r.? p.Arg15Hisfs*5 CGC>CAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00060 - - - 1_14 - -
    +
- r.? p.? unknown variant 2nd chromosome - - DNA SEQ - ? APECED - - Italy:Lecce - - - 1 Italy - - - -
+/? AIRE_00060 - - - 1_14 - -
    +
- r.? p.? unknown variant 2nd chromosome - - DNA SEQ - ? APECED - - Italy:Lecce - - - 1 Poland - - - -
+/? AIRE_00016 - Heino 1999 g.45706498_45706533del 02 g.5736_5771del g.5315_5350del - r.? p.Ser64_Asp76delinsTyr TCC … GAC > TAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00017 - Heino 1999 g.45706512_45706515dup 02 g.5750_5753dup g.5329_5332dup - r.? p.Asp70Alafs*148 GAC>GCA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00018 - - g.45706533G>A 02 g.5771G>A g.5350G>A - r.? p.(Asp76Asn) GAC>AAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00019 - Meloni 2005 g.45706537T>C 02 g.5775T>C g.5354T>C - r.? p.(Phe77Ser) TTC>TCC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Meloni 2002 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? APS1/APECED - - Italy:Lecce familial, autosomal recessive - - 1 - - - - -
+/? AIRE_00021 - - g.45706539T>A 02 g.5777T>A g.5356T>A - r.? p.(Trp78Arg) - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00022 - Bjorses 2000 g.45706545G>T 02 g.5783G>T g.5362G>T - r.? p.(Val80Leu) GTG>TTG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00023 - Zaidi 2009 g.45706546T>G 02 g.5784T>G g.5363T>G - r.? p.(Val80Gly) GTG>GGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00024 - Nagamine 1997, (OMIM 0002) g.45706554A>G 02 g.5792A>G g.5371A>G
    +
- r.? p.(Lys83Glu) AAG>GAG - - DNA SEQ - ? APECED - 2 patients Italy:Lecce - - - 2 Finland - - - -
+/? AIRE_00025 - Bjorses 2000 g.45706561A>G 02 g.5799A>G g.5378A>G - r.? p.(Tyr85Cys) TAC>TGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00026 - Mazza 2011 g.45706567T>C 02 g.5805T>C g.5384T>C - r.? p.(Leu87Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00027 - Cepedano Dans 2002 An Esp Pediatr g.45706569G>T 02 g.5807G>T g.5386G>T - r.? p.(Glu88*) GAG>TAG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00028 - Pearce 1998 g.45706576A>G 02 g.5814A>G g.5393A>G - r.? p.(Tyr90Cys) TAT>TGT - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00029 - F Magitta 2008 g.45706581C>T 02 g.5819C>T g.5398C>T - r.? p.(Arg92Trp) CGG>TGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00030 - Ward 1999 JCEM g.45706585T>G 02 g.5823T>G g.5402T>G - r.? p.(Leu93Arg) CTG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00031 - Wolff 2007 g.45706597T>C 02 g.5835T>C g.5414T>C - r.? p.(Leu97Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00032 - Shin and Lee 2011 Horm Res Paediatr g.45706613del 02 g.5851del g.5430del - r.? p.(Asp103Metfs*44) AAA GAT > AAG ATG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Mazza 2011 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Capalbo 2009 Horm Res g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00026 - Montin 2008 Clin Exp Immunol g.45706567T>C 02 g.5805T>C g.5384T>C - r.? p.(Leu87Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00219 - Scott et al. [1998] g.45706675C>T 02i g.5913C>T g.5492C>T - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Cihakova 2001 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Meloni 2005 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00031 - Dominguez 2006 g.45706597T>C 02 g.5835T>C g.5414T>C - r.? p.(Leu97Pro) CTG>CCG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Cervato 2009 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00025 - Halonen 2002 g.45706561A>G 02 g.5799A>G g.5378A>G - r.? p.(Tyr85Cys) TAC>TGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00017 - Faiyaz-Ul-Haque 2009 g.45706512_45706515dup 02 g.5750_5753dup g.5329_5332dup - r.? p.Asp70Alafs*148 GAC>GCA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00020 - Orlova 2010 g.45706539T>C 02 g.5777T>C g.5356T>C - r.? p.(Trp78Arg) TGG>CGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00033 - - g.45706895G>T 03 g.6133G>T g.5712G>T - r.? p.(Lys114Asn) AAG>AAT - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00034 - - g.45706900C>T 03 g.6138C>T g.5717C>T - r.? p.(Pro116Leu) CCG>CTG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00035 - Jaimes Parada 2008 An Pediatr Barc g.45706905del 03 g.6143del g.5722del - r.? p.(Val118Serfs*29) GTC>TCC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00036 - Wolff 2007 g.45706955del 03 g.6193del g.5772del - r.? p.(Ser135Glnfs*12) GCC TCA > GCT CAG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00037 - - g.45706968C>G 03 g.6206C>G g.5785C>G - r.? p.(Arg139Gly) CGA>GGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Rosatelli 1998 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00039 - - g.45706981C>T 03 g.6219C>T g.5798C>T - r.? p.(Pro143Leu) CCA>CTA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00040 - von Schnurbein 2008 g.45707016G>A 03 g.6254G>A g.5833G>A - r.? p.(Gly155Ser) GGC>AGC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00126 - Wang 1998 g.45707018T>C 03i g.6256T>C g.5835T>C - r.(spl?) p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00141 - Tazi-Ahnini et al. [2002] g.45706940C>T 03 g.6178C>T g.5757C>T - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00142 - Trebušak Podkrajšek et al. [2008] g.45707015A>T 03 g.6253A>T g.5832A>T - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Zaidi 2009 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Cihakova 2001 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Valenzise 2010 Horm Res Paediatr g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Orlova 2010 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Mazza 2011 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00126 - Dominguez 2006 g.45707018T>C 03i g.6256T>C g.5835T>C - r.(spl?) p.? - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00038 - Cervato 2009 g.45706968C>T 03 g.6206C>T g.5785C>T - r.? p.(Arg139*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00041 - - g.45707421C>T 04 g.6659C>T g.6238C>T - r.? p.(Pro162Leu) CCC>CTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00042 - - g.45707433C>T 04 g.6671C>T g.6250C>T - r.? p.(Pro166Leu) CCG>CTG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00043 - Bjorses 2000 g.45707444_45707445ins13 04 g.6682_6683ins13 g.6261_6262ins13 - r.? p.(Ala170...fs*51) - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00044 - Heino 1999 g.45707453C>T 04 g.6691C>T g.6270C>T - r.? p.(Gln173*) CAG>TAG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00045 - - g.45707457G>A 04 g.6695G>A g.6274G>A - r.? p.(Arg174His) CGC>CAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00228 - Tazi-Ahnini et al. [2002] g.45707516A>G 04i g.6754A>G g.6333A>G - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00230 - Tazi-Ahnini et al. [2002] g.45707523A>G 04i g.6761A>G g.6340A>G - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
-?/? AIRE_00248 - Tazi-Ahnini et al. [2002] g.45708182A>G 04i g.7420A>G g.6999A>G - r.? p.= - - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00044 - Bjorses 2000 g.45707453C>T 04 g.6691C>T g.6270C>T - r.? p.(Gln173*) CAG>TAG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00046 - Podkrajsek 2005 g.45708229del 05 g.7467del g.7046del - r.? p.(Ile181Phefs*197) GGG ATT > GGA TTC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00047 - - g.45708237C>A 05 g.7475C>A g.7054C>A - r.? p.(Thr183Asn) ACC>AAC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00048 - - g.45708249C>T 05 g.7487C>T g.7066C>T - r.? p.(Ser187Leu) TCA>TTA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00049 - - g.45708278G>A 05 g.7516G>A g.7095G>A - r.? p.(Gly197Arg) GGG>AGG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00050 - Nejentsev 2009 Science g.45708284G>A 05 g.7522G>A g.7101G>A - r.? p.(Val199Ile) GTC>ATC - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
?/? AIRE_00051 - - g.45708288C>T 05 g.7526C>T g.7105C>T - r.? p.(Pro200Leu) CCG>CTG - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
+/? AIRE_00052 - Scott 1998 g.45708296C>T 05 g.7534C>T g.7113C>T - r.? p.(Arg203*) CGA>TGA - - DNA SEQ - ? ? - - Italy:Lecce - - - 1 - - - - -
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Legend: [ AIRE 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. AIRE DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code dbSNP: identifier in dbSNP (format {dbSNPxxxx} for rsxxxx) Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. DNA_chr21: variant description based on reference sequence AB006684.1 Exon: Exon/Intron numbering. DNA_NG_: description of variant at DNA level, based on a NG_ genomic reference sequence, following HGVS recommendations; e.g. g.123C>T AB006684.1: variant description based on reference sequence AB006684.1 DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) Variant remarks: Variant remarks Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Frequency: frequency in which variant was found; e.g 5/76 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: preferred format is 5/76. Template: Template Technique: Technique Restriction-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Patient ID: Internal reference to the patient. Disease: Disease phenotype Phenotype additional: Phenotype, additional features Ref_pat-pheno: reference to publication describing the patient/family and/or giving more phenotypic details than listed in the database, incl. link to PubMed (format {PMID1:2} where 1 = PubMedID, 2 = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346" Inherit: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # Reported: number of independent families or patients per family reported (for summary data); when details are given for individual families/patients or for several patients per family give these in individual records. Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: gender of patient Phenotype/Onset: Phenotype/Onset Histology: -