All transcript variants in gene POMGNT1

Information The variants shown are described using the NM_017739.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+? i02-i09 c.-50-?_751+?del - r.? p.? g.(?_46660225)_(46663543_?)del - Deletion of exons 2–8 - POMGNT1_000034 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+? 03 c.25dupC - r.(25dupc) p.(Leu9Profs*20) g.46663469dup - c.25_26insC: premTerm28 - POMGNT1_000031 1 German MDDGA3(MEB) patient (com-het) PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+? 05 c.351delC - r.(351delc) p.(Thr118Argfs*26) g.46662406delG - c.350delC: Thr117fsX26 (exon 4) - POMGNT1_000032 2 Italian MDDGA3(MEB) patients (both com-het) and 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Mercuri et al. 2009, PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+? 07 c.447delT - r.(447delu) p.(Phe149Leufs*19) g.46661570delA - 541delT: Phe149 frameshift 167Stop - POMGNT1_000033 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+?/+? 07 c.526A>C - r.(526a>c) p.(Thr176Ala) g.46661491T>G - p.Thr176Pro - POMGNT1_000035 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Godfrey et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 08 c.575T>C - r.(575u>c) p.(Leu192Pro) g.46660593A>G - - - POMGNT1_000050 1 Chinese MDDGA3(MEB) patient (com-het) PubMed: Jiao et al. 2013 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
+/+? 08 c.593delG - r.(593delg) p.(Ser198Thrfs*43) g.46660575delC - c.593delG: premTerm240 - POMGNT1_000036 1 American and 1 German MDDGA3(MEB) patient (both com-het) PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 08 c.594C>G - r.(594c>g) p.(Ser198Arg) g.46660574G>C - - - POMGNT1_000037 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Biancheri et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+? 08 c.636C>T - r.535_652del p.Asp179Valfs*23 g.46660532G>A - - - POMGNT1_000038 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Oliveira et al. 2008 - SUMMARY record yes 0/110 CON - - - Anne Polvi
+/+? 08 c.643C>T - r.535_652del p.Asp179Valfs*23 g.46660525G>A - in-frame skipping of exon 7 - POMGNT1_000039 1 Italian MDDGA3(MEB) patient (com-het) and 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Mercuri et al. 2009, PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? i08 c.652+1G>A - r.spl? p.? g.46660515C>T - - - POMGNT1_000040 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+? 09 c.667G>A - r.(667g>a) p.(Glu223Lys) g.46660309C>T - 761G>A: Glu223Lys Missense - POMGNT1_000041 1 Japan and 1 Belgian MDDGA3(MEB) patient (both com-het) PubMed: Taniguchi et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+?/+? - c.703G>C - r.(?) p.(Gly235Arg) g.46660273C>G - - - POMGNT1_000054 1 Turkish patient (hom) with MDDGA3(MEB) PubMed: Yiş al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 10 c.794G>A - r.(794g>a) p.(Arg265His) g.46660031C>T - 935G>A:R265H;1073G>A:R311Q - POMGNT1_000002 1 American MDDGA3(MEB) family (com-het) and 1 MDDGA3(MEB) patient with unknown ethnicity (com-het); Variants c.794G>A (p.Arg265His) and c.932G>A (p.Arg311Gln) segregate together and it is unclear which one is (or if both are) causative PubMed: Vervoort et al. 2004, PubMed: Shenoy et al. 2010 - SUMMARY record yes - - - - Anne Polvi
+/+? 10 c.806G>A - r.(806g>a) p.(Cys269Tyr) g.46660019C>T - 900G>A: Cys269Tyr Missense - POMGNT1_000042 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+/+? i10 c.879+5G>A - r.spl? p.? g.46659941C>T - - - POMGNT1_000043 1 Swedish MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - SUMMARY record yes - - - - Anne Polvi
+/+? i10 c.879+5G>T - r.[879_880ins879+1_879+25; c.879+5G>T] p.Pro293_Leu294ins7*8 g.46659941C>A - - - POMGNT1_000044 1 Finnish MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - SUMMARY record yes 0/75 FIN CON - - - Anne Polvi
+/+? 11 c.931C>T - r.(931c>u) p.(Arg311*) g.46659546G>A - - - POMGNT1_000045 2 Italian MDDGA3(MEB) patients (both com-het) PubMed: Biancheri et al. 2001, PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 11 c.932G>A - r.(932g>a) p.(Arg311Gln) g.46659545C>T - 1073G>A:R311Q - POMGNT1_000047 1 American MEB family (com-het), 1 French MEB patient (com-het) and 1 MEB patient with unknown ethnicity (com-het); Variants c.794G>A (p.Arg265His) and c.932G>A (p.Arg311Gln) segregate together and it is unclear which one is (or if both are) causative PubMed: Vervoort et al. 2004, PubMed: Bouchet al. 2007, PubMed: Shenoy et al. 2010 - SUMMARY record yes - - - - Anne Polvi
+/+? 12 c.982dupG - r.(982dupg) p.(Val328Glyfs*11) g.46659280dup - 1077insG: Val328 frameshift 338Stop - POMGNT1_000046 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+?/+? 12 c.1011dupT - r.(1011dupu) p.(Asp338*) g.46659251dupA - Chr1:46659252 (c.1011) insT p.D338X - POMGNT1_000051 1 Korean patient (com-het) with probable MDDGA3(MEB) PubMed: Lim et al. 2013 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 13 c.1100G>A - r.(1100g>a) p.(Arg367His) g.46658987C>T - - - POMGNT1_000003 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 26 c.1274G>C - r.(1274g>c) p.(Trp425Ser) g.46658200C>G - - - POMGNT1_000004 1 Spanish MDDGA3(MEB) patient (com-het) and 1 Korean patient (hom) with propable MDDGA3(MEB) PubMed: Diesen et al. 2004, PubMed: Lim et al. 2013 - SUMMARY record yes - - 0 - Anne Polvi
+/+? i16 c.1285-2A>G - r.[1284_1285ins1284+1_1284-1; 1285-2a>g, 1285_1413del, =] p.[Gln428_Gly429ins27, Gly429_Lys471del, =] g.46658110T>C - - - POMGNT1_000005 2 Italian MDDGA3(MEB) patients (1 com-het and 1 het) and 1 MDDGA3(MEB) patient (hom) with unknown ethnicity; p.Gln428_Gly429ins27: p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR PubMed: Biancheri et al. 2001, PubMed: Diesen et al. 2004, PubMed: Mercuri et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+?/+? 17 c.1319T>G - r.(1319u>g) p.(Leu440Arg) g.46658074A>C - - - POMGNT1_000006 1 Chinese MDDGA3 (MEB) family (com-het) PubMed: Jiao et al. 2011, PubMed: Jiao et al. 2013 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
+/+? 17 c.1324C>T - r.(1324c>u) p.(Arg442Cys) g.46658069G>A - 1465C>T: R442C - POMGNT1_000007 1 American MDDGA3(MEB) family (com-het), 1 German MDDGA3(MEB) patient (hom) and 2 German siblings (hom) with MDDGA3(MEB) PubMed: Vervoort et al. 2004, PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+? 17 c.1325G>A - r.(1325g>a) p.(Arg442His) g.46658068C>T - c.1325G>A: p.Arg442His - POMGNT1_000008 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 17 c.1325G>T - r.(1325g>u) p.(Arg442Leu) g.46658068C>A - - - POMGNT1_000048 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao et al. 2013 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
+/+? 17 c.1342G>C - r.(1342g>c) p.(Gly448Arg) g.46658051C>G - - - POMGNT1_000009 1 Algerian MDDGA3(MEB) patient (com-het) PubMed: Vuillaumier-Barrot et al. 2011 - SUMMARY record yes - - - - Anne Polvi
+/+? 17 c.1350_1354delCTGGG - r.(1350_1354delcuggg) p.(Trp451Alafs*11) g.46658039_46658043delCCCAG - c.1350_1354delCTGGG: premTerm461 - POMGNT1_000010 2 Turkish MDDGA3(MEB) patients (hom) PubMed: Hehr et al. 2007, PubMed: Yiş et al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 17 c.1385T>A - r.(1385a>u) p.(Leu462His) g.46658008A>T - Chr1:46658008 (c.1385) T > A p.L462H - POMGNT1_000052 1 Korean patient with propable MDDGA3(MEB) PubMed: Lim et al. 2013 - SUMMARY record yes - - 0 - Anne Polvi
+/+? 18 c.1469G>A - r.(1469g>a) p.(Cys490Tyr) g.46657840C>T - - - POMGNT1_000011 3 American (2 com-het, 1 het), 2 Israeli (hom) 2 French (hom) and 1 Italian (com-het) MEB patient, and 2 MEB patients (com-het) with unknown ethnicity PubMed: Biancheri et al. 2001, PubMed: Diesen et al. 2004, PubMed: Godfrey et al. 2007, PubMed: Bouchet al. 2007, PubMed: Raducu et al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+/+? 18 c.1478C>G - r.(1478c>g) p.(Pro493Arg) g.46657831G>C - 1572C>G: Pro493Arg - POMGNT1_000012 1 French MDDGA3(MEB) patient (com-het) PubMed: Yoshida et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 18 c.1513G>A - r.(1513g>a) p.(Gly505Ser) g.46657796C>T - - - POMGNT1_000049 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao et al. 2013 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
+/+? i18 c.1539+1G>A - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>a] p.[Leu472_His513del, GLu514_Thr660delMSGRQGAGHSVAins] g.46657769C>T - IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del - POMGNT1_000015 Finnish Major/Founder MDDGA3(MEB) mutation: 19 Finnish MDDGA3(MEB) patients (18 hom, 1 com-het). Found in other populations: American, Turkish and Belgian MDDGA3(MEB) patients. Also one American/Japan (com-het) patient with mild WWS; variant causes splice defect, either exon 18 skipping or intron 18 inclusion PubMed: Yoshida et al. 2001, PubMed: Taniguchi et al. 2003, PubMed: Diesen et al. 2004, PubMed: Hehr et al. 2007, PubMed: Godfrey et al. 2007, PubMed: Bouchet al. 2007, PubMed: Teber et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+/+? i18 c.1539+1G>T - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>u] p.[Leu472_His513del, GLu514_Thr660delLSGRQGAGHSVAins] g.46657769C>A - IVS17+1G>T: Leu472-His513del - POMGNT1_000016 2 Turkish MDDGA3(MEB) patients PubMed: Yoshida et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+ i18-end c.1539+184_*2354del - r.? p.? g.46652588_46657586del - c.1539+184_1983+2354del4972; deletion of the last six exons - POMGNT1_000013 1 Tunisian (hom) MDDGA3(MEB) patient PubMed: Vuillaumier-Barrot et al. 2011 - SUMMARY record yes - - - - Anne Polvi
+/+ i18-end c.1539+261_*2405del - r.? p.? g.46652537_46657509del - c.1539+261_1983+2405del4972; deletion of the last six exons - POMGNT1_000014 1 Algerian (com-het) MDDGA3(MEB) patient PubMed: Vuillaumier-Barrot et al. 2011 - SUMMARY record yes - - - - Anne Polvi
+/+? i18 c.1540-2A>G - r.spl? p.? g.46656458T>C - c.1540-2A>G - POMGNT1_000017 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 18 c.1545delC - r.(?) p.(Tyr516Thrfs*21) g.46656451delG - - - POMGNT1_000053 1 MDDGA3(MEB) patient (com-het) PubMed: Raducu et al. 2014 - SUMMARY record ? - - 0 - Anne Polvi
+/+? 20 c.1649G>A - r.(1649g>a) p.(Ser550Asn) g.46656145C>T - 1743G>A: Ser550Asn - POMGNT1_000018 2 Turkish MDDGA3(MEB) patients PubMed: Yoshida et al. 2001 - SUMMARY record yes - - - - Anne Polvi
?/. - c.1666G>A - r.(?) p.(Asp556Asn) g.46655645C>T - - - POMGNT1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1666G>A - r.(?) p.(Asp556Asn) g.46655645C>T - - - POMGNT1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma
+/+? 21 c.1719delC - r.(1719delc) p.(His573Glnfs*61) g.46655592delG - 1813delC: His573 fs - POMGNT1_000019 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Yoshida et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+? 21 c.1738C>T - r.(1738c>u) p.(Arg580*) g.46655573G>A - c.1738C>T: p.Arg580X - POMGNT1_000020 1 MDDGA3(MEB) patient (com-het) PubMed: Hehr et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+? 21 c.1769G>A - r.(1769g>a) p.(Trp590*) g.46655542C>T - - - POMGNT1_000021 2 American MDDGA3(MEB) patients (com-het) PubMed: Diesen et al. 2004 - SUMMARY record yes - - - - Anne Polvi
+?/+? - c.1785+1G>A - r.spl? p.? g.46655525C>T - - - POMGNT1_000055 1 Turkish MDDGA3(MEB) patient PubMed: Yiş al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? i21 c.1785+2T>G - r.spl? p.? g.46655524A>C - - - POMGNT1_000022 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Godfrey et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+? 22b c.1814G>A - r.(1814g>a) p.(Arg605His) g.46655211C>T - c.1814G>A: p.Arg605His - POMGNT1_000023 8 Turkish patients (hom) with MDDGA3(MEB) and 2 MDDGA3(MEB) patients (com-het) with unknown ethnicity PubMed: Hehr et al. 2007, PubMed: Shenoy et al. 2010, PubMed: Yiş et al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 22b c.1814G>C - r.(1814g>c) p.(Arg605Pro) g.46655211C>G - - - POMGNT1_000024 2 Turkish (hom) and 1 Chinese (com-het) MDDGA3(MEB) patient PubMed: Demir et al. 2009, PubMed: Jiao et al. 2013, PubMed: Yiş et al. 2014 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
+/+? 22b c.1864delC - r.(1864delc) p.(Leu622Trpfs*12) g.46655161delG - c.1863delC: Leu622X (exon 21) - POMGNT1_000025 2 Italian MDDGA3(MEB) patients (both hom) PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+? 22b c.1876delG - r.(1876delg) p.(Val626Serfs*8) g.46655149delC - 1970delG: Val626 fs - POMGNT1_000026 1 French MDDGA3(MEB) patient (com-het) PubMed: Yoshida et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+? i22b c.1895+1G>A - r.spl? p.? g.46655129C>T - - - POMGNT1_000028 1 American MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - SUMMARY record yes - - - - Anne Polvi
+/+? i22b c.1895+1G>T - r.1895_1896ins1895+1_1896-1 p.? g.46655129C>A - c.1895+1G>T: intron between exons 21 and 22 was retained - POMGNT1_000029 1 American and 1 Italian MDDGA3(MEB) patient (both com-het) and 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Diesen et al. 2004, PubMed: Mercuri et al. 2009, PubMed: Saredi et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+? i22b c.1895+1_1895+4delGTGA - r.[1895_1896ins1895+1_1896-1; 1895+1_1895+4delGTGA] p.Val633* g.46655126_46655129delTCAC - - - POMGNT1_000027 1 Spanish MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - SUMMARY record yes - - 0 - Anne Polvi
+/+? i22b c.1896-1G>C - r.1896_1897delag p.Val633Glufs*53 g.46655030C>G - - - POMGNT1_000030 1 Chinese MDDGA3(MEB) family (com-het) PubMed: Jiao et al. 2011, PubMed: Jiao et al. 2013 - SUMMARY record yes 0/50 CON - 0 - Anne Polvi
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