Unique variants in gene AMT

Information The variants shown are described using the NM_000481.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Effect     

Reported     

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     
+/. 1 1 c.-66A>G - r.(=) p.(=) g.49459949T>C - 1-66A>G - AMT_000036 - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.-64A>G - r.(=) p.(=) g.49459947T>C - 1-64A>G - AMT_000035 - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.-58C>T - r.(=) p.(=) g.49459941G>A - 1-58C>T - AMT_000034 - - - Germline yes - - - - Johan Van Hove
?/?, +/. 3 1 c.-55C>T - r.?, r.(=) p.?, p.(=) g.49459938G>A - 1-55C>T - AMT_000001 1 GCE patient (com-het) PubMed: Pardal-Fernandez et al. 2009 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 7 1 c.2T>C - r.? p.? g.49459882A>G - - - AMT_000033 - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.4C>T - r.(?) p.(Gln2*) g.49459880G>A - - - AMT_000032 - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.13_16del - r.(?) p.(Ser6Trpfs*89) g.49459868_49459871del - - - AMT_000030 - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.14dupT - r.(?) p.(Ser6Lysfs*22) g.49459870dupA - - - AMT_000031 - - - Germline yes - - - - Johan Van Hove
+/. 6 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del - 15_18delAAGT, 15_18del4 - AMT_000028 - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.16delA - r.(?) p.(Ser6Valfs*90) g.49459868delT - - - AMT_000029 - - - Germline yes - - - - Johan Van Hove
+/+ 1 1 c.59delC - r.(59delc) p.(Pro20Argfs*76) g.49459825delG - 183delC, c.54delC - AMT_000002 1 Japanese GCE family with 3 patients (P25; com-het) PubMed: Kure et al.1998, PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 1 c.61delG - r.(61delg) p.(Ala21Profs*75) g.49459823delC - c.60delG - AMT_000003 1 Caucasian GCE family (P30; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 1 c.63delC - r.(63delc) p.(Leu22Cysfs*74) g.49459821delG - c.61delC - AMT_000004 No C in position 61, nex C:s in positions c.62_63; 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 2 c.125A>G - r.(125a>g) p.(His42Arg) g.49459670T>C - - - AMT_000005 1 Israeli-Arab GCE family (hom) PubMed: Kure et al. 1998, PubMed: Kure et al. 2006 rs121964983 SUMMARY record yes - - - - Anne Polvi
+/+, +/. 5 2 c.139G>A - r.(139g>a), r.(?) p.(Gly47Arg) g.49459656C>T - - - AMT_000006 1 GCE family (com-het) PubMed: Nanao et al. 1994 rs121964982 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+ 1 2 c.139G>T - r.(139g>u) p.(Gly47Trp) g.49459656C>A - - - AMT_000008 1 Caucasian GCE family (P34; het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 2 c.148delG - r.(148delg) p.(Val50Trpfs*46) g.49459647delC - c.147delG - AMT_000009 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 2 2 c.178_181del - r.(?) p.(Gln60Thrfs*35) g.49459614_49459617del - 178_181delCAGT - AMT_000074 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 3 2 c.212A>C - r.(212a>c), r.(?) p.(His71Pro) g.49459583T>G - - - AMT_000010 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 rs149105054 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+, +/. 9 2 c.217C>T - r.(217c>u), r.(?) p.(Arg73Cys) g.49459578G>A - - - AMT_000011 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+, +/. 5 2 c.230C>T - r.(230c>u), r.(?) p.(Ser77Leu) g.49459565G>A - - - AMT_000012 1 Caucasian GCE family (P21; hom) PubMed: Kure et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 4 2 c.248A>G - r.(?) p.(His83Arg) g.49459547T>C - - - AMT_000073 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 3 2i c.259-1G>C - r.spl? p.?, p.(Thr87_Gln113del) g.49459006C>G - IVS2-1G>C, 259-1>C - AMT_000013 1 GCE family (com-het) PubMed: Pardal-Fernandez et al. 2009 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/., +?/. 10 3 c.280C>T - r.(?), r.280c>u p.(Arg94Trp), p.Arg94Trp g.49458984G>A - - - AMT_000072 - - - Germline yes - - - - Johan Van Hove, Pilar Rodriguez Pombo
+/. 2 3 c.293T>G - r.(?) p.(Met98Arg) g.49458971A>C - - - AMT_000071 - - - Germline yes - - - - Johan Van Hove
+/. 5 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G - - - AMT_000070 - - - Germline yes - - - - Johan Van Hove
+/. 2 3i c.340-1G>A - r.spl p.(Gly114_GlyLeun157del), p.? g.49457776C>T - IVS3-1G>A - AMT_000069 - - - Germline yes - - - - Johan Van Hove
+/. 4 4 c.350C>T - r.(?) p.(Ser117Leu) g.49457765G>A - - - AMT_000068 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.395_400del - r.(?) p.(Val132_Asn134delinsAsp) g.49457715_49457720del - 395_400del6 - AMT_000067 - - - Germline yes - - - - Johan Van Hove
+/., +/+ 3 4 c.434A>T - r.(?), r.(434a>u) p.(Asn145Ile) g.49457681T>A - - - AMT_000014 2 Caucasian/Native American sibs (com-het) with GCE PubMed: Toone et al. 2001 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 2 4 c.451_466del - r.(?) p.(Lys151Cysfs*25) g.49457649_49457664del - 451_466del16 - AMT_000065 - - - Germline yes - - - - Johan Van Hove
+/. 2 4 c.452_465del - r.(?) p.(Lys151Asnfs*22) g.49457650_49457663del - 452_465del14 - AMT_000066 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 7 4 c.452_466del - r.(452_466del), r.(?) p.(Lys151_Leu155del) g.49457649_49457663del - 452_466del15 - AMT_000015 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/+, +/. 6 4i c.471+2T>C - r.spl? p.? g.49457642A>G - IVS4+2T>C - AMT_000016 1 Caucasian GCE family (P31; com-het) PubMed: Kure et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 3 5 c.496C>T - r.(?) p.(Gln166*) g.49457197G>A - - - AMT_000064 - - - Germline yes - - - - Johan Van Hove
+/. 1 5 c.515T>C - r.(?) p.(Leu172Pro) g.49457178A>G - - - AMT_000063 - - - Germline yes - - - - Johan Van Hove
+/. 2 5 c.534_535dup - r.(?) p.(Leu179Profs*3) g.49457158_49457159dup - 534_535insCC - AMT_000062 - - - Germline yes - - - - Johan Van Hove
+/+ 1 5 c.535delC - r.(535delc) p.(Leu179Cysfs*2) g.49457158delG - - - AMT_000017 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 2 5 c.545T>C - r.(?) p.(Leu182Pro) g.49457148A>G - - - AMT_000061 - - - Germline yes - - - - Johan Van Hove
+/. 1 5 c.548A>G - r.(?) p.(Gln183Arg) g.49457145T>C - - - AMT_000060 - - - Germline yes - - - - Johan Van Hove
+/. 2 6 c.551_552delinsAA - r.(?) p.(Gly184Glu) g.49456837_49456838delinsTT - - - AMT_000059 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 6 c.574C>T - r.(574c>u), r.(?) p.(Gln192*) g.49456815G>A - - - AMT_000018 1 GCE patient (het) PubMed: Toone et al. 2000 rs121964986 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+?/+?, +/. 2 6 c.635T>C - r.(635u>c), r.(?) p.(Val212Ala) g.49456754A>G - - - AMT_000019 1 GCE patient PubMed: Toone et al. 2003 rs201141125 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 12 6 c.664C>T - r.(?) p.(Arg222Cys) g.49456725G>A - - - AMT_000058 - - - Germline yes - - - - Johan Van Hove
+/. 3 6 c.665G>A - r.(?) p.(Arg222His) g.49456724C>T - - - AMT_000056 - - - Germline yes - - - - Johan Van Hove
+/. 1 6 c.665G>C - r.(?) p.(Arg222Pro) g.49456724C>G - - - AMT_000057 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 6 c.674A>G - r.(674a>g), r.(?) p.(Tyr225Cys) g.49456715T>C - - - AMT_000020 1 GCE patient PubMed: Toone et al. 2003 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 6 c.685G>C - r.(?) p.(Asp229His) g.49456704C>G - - - AMT_000055 - - - Germline yes - - - - Johan Van Hove
+/. 1 6_6i c.695_696+33delinsGGCTGTACAGA - r.? p.(Asp229Glyfs*10) g.49456660_49456694delinsTCTGTACAGCC - 695_696+33del35insGGCTGTACAGA - AMT_000053 - - - Germline yes - - - - Johan Van Hove
+/. 1 6i c.696+5G>C - r.spl? p.? g.49456688C>G - IVS6+5G>C - AMT_000054 - - - Germline yes - - - - Johan Van Hove
+/. 1 7 c.731dupC - r.(?) p.(Thr245Asnfs*32) g.49456550dupG - - - AMT_000052 - - - Germline yes - - - - Johan Van Hove
+/. 3 7 c.793C>A - r.(?) p.(Arg265Ser) g.49456488G>T - - - AMT_000050 - - - Germline yes - - - - Johan Van Hove
+/. 4 7 c.793C>T - r.(?) p.(Arg265Cys) g.49456488G>A - - - AMT_000051 - - - Germline yes - - - - Johan Van Hove
+/. 5 7 c.794G>A - r.(?) p.(Arg265His) g.49456487C>T - - - AMT_000049 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 7 c.806G>A - r.(806g>a), r.(?) p.(Gly269Asp) g.49456475C>T - - - AMT_000007 1 GCE family (hom) PubMed: Nanao et al. 1994 rs121964981 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 7 c.808_811delinsAGAG - r.(?) p.(Leu270_Cys271delinsArgGly) g.49456470_49456473delinsCTCT - 808_811del4insAGAG - AMT_000048 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 5 7 c.826G>C - r.(826g>c), r.(?) p.(Asp276His) g.49456455C>G - - - AMT_000021 1 GCE family PubMed: Kure et al.1998, PubMed: Kure et al. 2006 rs121964984 SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 7 c.845C>T - r.(?) p.(Thr282Ile) g.49456436G>A - - - AMT_000047 - - - Germline yes - - - - Johan Van Hove
+/. 1 7i c.877+5G>A - r.spl? p.? g.49456399C>T - IVS7+5G>A - AMT_000046 - - - Germline yes - - - - Johan Van Hove
+/., +/+ 2 7i c.878-1G>A - r.spl? p.(Lys294fs), p.? g.49455407C>T - IVS7-1G>A - AMT_000022 5 GCE patients PubMed: Toone et al. 2001, PubMed: Toone et al. 2001 rs181134220 Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 3 8 c.879G>A - r.(=) p.(=) g.49455405C>T - IVS7-1G>A - AMT_000045 - - - Germline yes - - - - Johan Van Hove
+/. 4 8 c.886C>T - r.(?) p.(Arg296Cys) g.49455398G>A - - - AMT_000044 - - - Germline yes - - - - Johan Van Hove
+/., +/+ 8 8 c.887G>A - r.(?), r.(887g>a) p.(Arg296His) g.49455397C>T - - - AMT_000023 1 GCE patient PubMed: Toone et al. 2003 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 1 8 c.887G>C - r.(?) p.(Arg296Pro) g.49455397C>G - - - AMT_000043 - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.921G>A - r.(?) p.(Val307=) g.49455363C>T - - - AMT_000042 - - - Germline yes - - - - Johan Van Hove
+/. 2 8 c.958C>G - r.(?) p.(Arg320Gly) g.49455326G>C - - - AMT_000040 - - - Germline yes - - - - Johan Van Hove
+/. 2 8 c.958C>T - r.(?) p.(Arg320Cys) g.49455326G>A - - - AMT_000041 - - - Germline yes - - - - Johan Van Hove
+/., +/+ 37 8 c.959G>A - r.(?), r.(959g>a) p.(Arg320His) g.49455325C>T - - - AMT_000024 9 GCE patients PubMed: Nanao et al. 1994, PubMed: Toone et al. 2000, PubMed: Toone et al. 2001 rs121964985 Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/+ 1 8 c.970_972delATG - r.(970_972delaug) p.(Met324del) g.49455312_49455314delCAT - c.970_972delATG: 320Met Deletion - AMT_000025 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 8 c.982_983delinsT - r.(982_983delgcinsu) p.(Ala328Serfs*10) g.49455301_49455302delinsA - c.982_972GC>T - AMT_000026 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 3 8 c.987delC - r.(?) p.(Met330Cysfs*8) g.49455297delG - - - AMT_000039 - - - Germline yes - - - - Johan Van Hove
+/. 4 8 c.992G>A - r.(?) p.(Arg331Gln) g.49455292C>T - - - AMT_000038 - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.992G>C - r.(?) p.(Arg331Pro) g.49455292C>G - - - AMT_000037 - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.996dupA - r.(?) p.(His333Thrfs*17) g.49455288dupT - 996insA - AMT_000081 - - - Germline yes - - - - Johan Van Hove
+/. 1 8 c.998dup - r.(?) p.(His333Glnfs*17) g.49455286dup - - - AMT_000080 - - - Germline yes - - - - Johan Van Hove
+/. 2 8 c.999_1000del - r.(?) p.(His333Glnfs*16) g.49455284_49455285del - 999-1000delCA - AMT_000079 - - - Germline yes - - - - Johan Van Hove
+/. 2 8i c.1034+1G>C - r.spl p.? g.49455150C>G - IVS8+1G>C - AMT_000078 - - - Germline yes - - - - Johan Van Hove
+/. 2 8i c.1034+2T>C - r.spl? p.? g.49455149A>G - IVS8+2insT, IVS8+2T>C - AMT_000077 - - - Germline yes - - - - Johan Van Hove
+/. 1 9 c.1040_1041del - r.(?) p.(Val347Aspfs*2) g.49455144_49455145del - 1040_1041delTG - AMT_000076 - - - Germline yes - - - - Johan Van Hove
+/. 1 9 c.1063delT - r.(?) p.(Ser355Leufs*2) g.49455122delA - - - AMT_000075 - - - Germline yes - - - - Johan Van Hove
+/. 1 9 c.1082C>T - r.(?) p.(Ala361Val) g.49455103G>A - - - AMT_000083 - - - Germline yes - - - - Johan Van Hove
+/. 2 9 c.1087G>C - r.(?) p.(Gly363Arg) g.49455098C>G - - - AMT_000082 - - - Germline yes - - - - Johan Van Hove
+/. 1 9 c.1101C>A - r.(?) p.(Cys367*) g.49455084G>T - - - AMT_000084 - - - Germline yes - - - - Johan Van Hove
+/. 4 9 c.1107_1108del - r.(?) p.(Tyr369*) g.49455077_49455078del - 1107-1108delAC - AMT_000027 - - - Germline yes - - - - Johan Van Hove
Legend