All transcript variants in gene AMT

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

275 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 c.-66A>G - r.(=) p.(=) g.49459949T>C g.49422516T>C 1-66A>G - AMT_000036 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.-64A>G - r.(=) p.(=) g.49459947T>C g.49422514T>C 1-64A>G - AMT_000035 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.-58C>T - r.(=) p.(=) g.49459941G>A g.49422508G>A 1-58C>T - AMT_000034 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.-58C>T - r.(=) p.(=) g.49459941G>A g.49422508G>A 1-58C>T - AMT_000034 - - - - Germline yes - - 0 - Johan Van Hove
?/? 1 c.-55C>T - r.? p.? g.49459938G>A g.49422505G>A - - AMT_000001 1 GCE patient (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 1 c.-55C>T - r.(=) p.(=) g.49459938G>A g.49422505G>A 1-55C>T - AMT_000001 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.-55C>T - r.(=) p.(=) g.49459938G>A g.49422505G>A 1-55C>T - AMT_000001 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.2T>C - r.? p.? g.49459882A>G g.49422449A>G - - AMT_000033 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.4C>T - r.(?) p.(Gln2*) g.49459880G>A g.49422447G>A - - AMT_000032 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.13_16del - r.(?) p.(Ser6Trpfs*89) g.49459868_49459871del g.49422435_49422438del - - AMT_000030 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.14dupT - r.(?) p.(Ser6Lysfs*22) g.49459870dupA g.49422437dupA - - AMT_000031 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.14dupT - r.(?) p.(Ser6Lysfs*22) g.49459870dupA g.49422437dupA - - AMT_000031 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18del4 - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.15_18del - r.(?) p.(Ser6Trpfs*89) g.49459866_49459869del g.49422433_49422436del 15_18delAAGT - AMT_000028 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.16delA - r.(?) p.(Ser6Valfs*90) g.49459868delT g.49422435delT - - AMT_000029 - - - - Germline yes - - 0 - Johan Van Hove
+/. 1 c.16delA - r.(?) p.(Ser6Valfs*90) g.49459868delT g.49422435delT - - AMT_000029 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 1 c.59delC - r.(59delc) p.(Pro20Argfs*76) g.49459825delG g.49422392delG 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 - - 0 - Anne Polvi
+/+ 1 c.61delG - r.(61delg) p.(Ala21Profs*75) g.49459823delC g.49422390delC c.60delG - AMT_000003 1 Caucasian GCE family (P30; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 1 c.63delC - r.(63delc) p.(Leu22Cysfs*74) g.49459821delG g.49422388delG 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 - - 0 - Anne Polvi
+/+ 2 c.125A>G - r.(125a>g) p.(His42Arg) g.49459670T>C g.49422237T>C - - AMT_000005 1 Israeli-Arab GCE family (hom) PubMed: Kure et al. 1998, PubMed: Kure et al. 2006 - rs121964983 SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.139G>A - r.(139g>a) p.(Gly47Arg) g.49459656C>T g.49422223C>T - - AMT_000006 1 GCE family (com-het) PubMed: Nanao et al. 1994 - rs121964982 SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.139G>A - r.(?) p.(Gly47Arg) g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.139G>A - r.(?) p.(Gly47Arg) g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.139G>A - r.(?) p.(Gly47Arg) g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.139G>A - r.(?) p.(Gly47Arg) g.49459656C>T g.49422223C>T - - AMT_000006 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 2 c.139G>T - r.(139g>u) p.(Gly47Trp) g.49459656C>A g.49422223C>A - - AMT_000008 1 Caucasian GCE family (P34; het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.148delG - r.(148delg) p.(Val50Trpfs*46) g.49459647delC g.49422214delC c.147delG - AMT_000009 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.178_181del - r.(?) p.(Gln60Thrfs*35) g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.178_181del - r.(?) p.(Gln60Thrfs*35) g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - Johan Van Hove
?/. - c.203C>T VUS r.(?) p.(Ser68Leu) g.49459592G>A - AMT:c.203C>T (S68L) - AMT_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 2 c.212A>C - r.(212a>c) p.(His71Pro) g.49459583T>G g.49422150T>G - - AMT_000010 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - rs149105054 SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.212A>C - r.(?) p.(His71Pro) g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.212A>C - r.(?) p.(His71Pro) g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 2 c.217C>T - r.(217c>u) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.217C>T - r.(?) p.(Arg73Cys) g.49459578G>A g.49422145G>A - - AMT_000011 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 2 c.230C>T - r.(230c>u) p.(Ser77Leu) g.49459565G>A g.49422132G>A - - AMT_000012 1 Caucasian GCE family (P21; hom) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.230C>T - r.(?) p.(Ser77Leu) g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T - r.(?) p.(Ser77Leu) g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T - r.(?) p.(Ser77Leu) g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T - r.(?) p.(Ser77Leu) g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
-?/. - c.258+242A>G likely benign r.(=) p.(=) g.49459295T>C - AMT:c.258+242A>G - AMT_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.259-109T>G likely benign r.(=) p.(=) g.49459114A>C - AMT:c.259-109T>G - AMT_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 2i c.259-1G>C - r.spl? p.? g.49459006C>G g.49421573C>G IVS2-1G>C - AMT_000013 1 GCE family (com-het) PubMed: Pardal-Fernandez et al. 2009 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 2i c.259-1G>C - r.spl? p.? g.49459006C>G g.49421573C>G IVS2-1G>C - AMT_000013 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2i c.259-1G>C - r.spl? p.(Thr87_Gln113del) g.49459006C>G g.49421573C>G 259-1>C - AMT_000013 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.280C>T - r.(?) p.(Arg94Trp) g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Johan Van Hove
+?/. 3 c.280C>T - r.280c>u p.Arg94Trp g.49458984G>A g.49421551G>A - - AMT_000072 - - - - Germline yes - - 0 - Pilar Rodriguez Pombo
+/. 3 c.293T>G - r.(?) p.(Met98Arg) g.49458971A>C g.49421538A>C - - AMT_000071 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.293T>G - r.(?) p.(Met98Arg) g.49458971A>C g.49421538A>C - - AMT_000071 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3 c.317T>C - r.(?) p.(Ile106Thr) g.49458947A>G g.49421514A>G - - AMT_000070 - - - - Germline yes - - 0 - Johan Van Hove
?/. - c.317T>C VUS r.(?) p.(Ile106Thr) g.49458947A>G - AMT:c.317T>C (I106T) - AMT_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 3i c.340-1G>A - r.spl p.? g.49457776C>T g.49420343C>T IVS3-1G>A - AMT_000069 - - - - Germline yes - - 0 - Johan Van Hove
+/. 3i c.340-1G>A - r.spl p.(Gly114_GlyLeun157del) g.49457776C>T g.49420343C>T - - AMT_000069 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.350C>T - r.(?) p.(Ser117Leu) g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.350C>T - r.(?) p.(Ser117Leu) g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.350C>T - r.(?) p.(Ser117Leu) g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.350C>T - r.(?) p.(Ser117Leu) g.49457765G>A g.49420332G>A - - AMT_000068 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.395_400del - r.(?) p.(Val132_Asn134delinsAsp) g.49457715_49457720del g.49420282_49420287del 395_400del6 - AMT_000067 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 4 c.434A>T - r.(434a>u) p.(Asn145Ile) g.49457681T>A g.49420248T>A - - AMT_000014 2 Caucasian/Native American sibs (com-het) with GCE PubMed: Toone et al. 2001 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 4 c.434A>T - r.(?) p.(Asn145Ile) g.49457681T>A g.49420248T>A - - AMT_000014 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.434A>T - r.(?) p.(Asn145Ile) g.49457681T>A g.49420248T>A - - AMT_000014 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.451_466del - r.(?) p.(Lys151Cysfs*25) g.49457649_49457664del g.49420216_49420231del 451_466del16 - AMT_000065 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.451_466del - r.(?) p.(Lys151Cysfs*25) g.49457649_49457664del g.49420216_49420231del 451_466del16 - AMT_000065 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_465del - r.(?) p.(Lys151Asnfs*22) g.49457650_49457663del g.49420217_49420230del 452_465del14 - AMT_000066 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_465del - r.(?) p.(Lys151Asnfs*22) g.49457650_49457663del g.49420217_49420230del 452_465del14 - AMT_000066 - - - - Germline yes - - 0 - Johan Van Hove
+/+ 4 c.452_466del - r.(452_466del) p.(Lys151_Leu155del) g.49457649_49457663del g.49420216_49420230del - - AMT_000015 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 4 c.452_466del - r.(?) p.(Lys151_Leu155del) g.49457649_49457663del g.49420216_49420230del 452_466del15 - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
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