Unique variants in gene GLDC

Information The variants shown are described using the NM_000170.2 transcript reference sequence.

412 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Enzyme activity     

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     
+/. 2 - c.? - r.? p.? - g.? - - - GLDC_000000 - - - Germline yes - - - - Johan Van Hove
./. 1 - c.-1553500_*6328913del - - - - g.204104_8198999del - - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - - - Johan den Dunnen
+/. 5 _1_1i c.(?_-1)_(255+1_256-1)del - r.0? p.0? - g.(6644693_6645244)_(6645500_?) - - - GLDC_000006 - - - Germline yes - - - - Johan Van Hove
+/. 47 _1_2i c.(?_-1)_(334+1_335-1)del - r.0? p.0? - g.(6620320_6644613)_(6645500_?) - - - GLDC_000007 - - - Germline yes - - - - Johan Van Hove
+/. 6 _1_4i c.(?_-1)_(635+1_636-1)del - r.0? p.0? - g.(6606670_6610191)_(6645500_?) - - - GLDC_000331 - - - Germline yes - - - - Johan Van Hove
+/. 7 _1_3i c.(?_-1)_(470+1_471-1)del - r.0? p.0? - g.(6610357_6620183)_(6645500_?) - - - GLDC_000008 - - - Germline yes - - - - Johan Van Hove
+/. 4 _1_5i c.(?_-1)_(713+1_714-1)del - r.0? p.0? - g.(6605279_6606591)_(6645500_?) - - - GLDC_000326 - - - Germline yes - - - - Johan Van Hove
+/. 13 _1_8i c.(?_-1)_(1155+1_1156-1)del - r.0? p.0? - g.(6595120_6602108)_(6645500_?) - - - GLDC_000280 - - - Germline yes - - - - Johan Van Hove
+/. 2 _1_10i c.(?_-1)_(1401+1_1402-1)del - r.0? p.0? - g.(6592224_6592850)_(6645500_?) - - - GLDC_000258 - - - Germline yes - - - - Johan Van Hove
+/. 1 _1_14i c.(?_-1)_(1707+1_1708-1)del - r.0? p.0? - g.(6587284_6588400)_(6645500_?) - - - GLDC_000238 - - - Germline yes - - - - Johan Van Hove
+/. 17 _1_15i c.(?_-1)_(1850+1_1851-1)del - r.0? p.0? - g.(6565430_6587140)_(6645500_?) - - - GLDC_000225 - - - Germline yes - - - - Johan Van Hove
+/. 3 _1_16i c.(?_-1)_(1926+1_1927-1)del - r.0? p.0? - g.(6558685_6565353)_(6645500_?) - - - GLDC_000004 - - - Germline yes - - - - Johan Van Hove
+/. 5 _1_17i c.(?_-1)_(2052+1_2053-1)del - r.0? p.0? - g.(6556303_6558558)_(6645500_?) - - - GLDC_000005 - - - Germline yes - - - - Johan Van Hove
+/. 1 _1_21i c.(?_-1)_(2569+1_2570-1)del - r.0? p.0? - g.(6540147_6550802)_(6645500_?) - - - GLDC_000138 - - - Germline yes - - - - Johan Van Hove
+/. 2 _1_22i c.(?_-1)_(2665+1_2666-1)del - r.0? p.0? - g.(6536237_6540050)_(6645500_?) - - - GLDC_000125 - - - Germline yes - - - - Johan Van Hove
+/. 1 _1_24i c.(?_-1)_(2919+1_2920-1)del - r.0? p.0? - g.(6533161_6534707)_(6645500_?) - - - GLDC_000394 - - - Germline yes - - - - Johan Van Hove
+/. 4 _1_25_ c.(?_-1)_(3063+1_?)del - r.0? p.0? - g.(?_6533016)_(6645500_?) - - - GLDC_000402 - - - Germline yes - - - - Johan Van Hove
+/+ 1 3i_25_ c.(470+1_471-1)_(*1_?)del - r.? p.? - g.(?_6532464)_(6610356_?)del - del Exons 4–25 - GLDC_000025 1 Turkish GCE patient (hom) PubMed: Conter et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_25_ c.(?_-1)_(*1_?)del - r.0 p.0 - g.(?_6532464)_(6645307_?)del - del Exons 1-25del (whole gene) - GLDC_000003 1 GCE family PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_16i c.(?_-1)_(1926+1_1927-1)del - r.? p.? - g.(?_6565354)_(6645307_?)del - del Exons 1-16 - GLDC_000004 1 Pakistani GCE family PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_17i c.(?_-1)_(2052+1_2053-1)del - r.? p.? - g.(?_6558559)_(6645307_?)del - del Exons 1-17 - GLDC_000005 2 GCE families PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_1i c.(?_-1)_(255+1_256-1)del - r.? p.? - g.(?_6645245)_(6645307_?)del - del Exon 1 - GLDC_000006 9 GCE families 1 more item - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_2i c.(?_-1)_(334+1_335-1)del - r.? p.? - g.(?_6644614)_(6645307_?)del - del Exons 1-2 - GLDC_000007 2 GCE families PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 _1_3i c.(?_-1)_(470+1_471-1)del - r.? p.? - g.(?_6620184)_(6645307_?)del - del Exons 1-3 - GLDC_000008 3 Oriental GCE families and 1 GCE patient PubMed: Takayanagi et al. 2000, PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 1 c.2T>C - r.2u>c p.? - g.6645498A>G - M1T - GLDC_000009 6 extended Arab GCE families from a small suburban village PubMed: Boneh et al. 2005 rs121964978 SUMMARY record yes - - - - Anne Polvi
+/. 2 1 c.3G>T - r.? p.? - g.6645497C>A - - - GLDC_000367 - - - Germline yes - - - - Johan Van Hove
+/. 2 1 c.24G>A - r.(?) p.(Trp8*) - g.6645476C>T - - - GLDC_000366 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 2 1 c.28delC - r.(28delc), r.(?) p.(Leu10Cysfs*81) - g.6645472delG - - - GLDC_000010 1 GCE patient PubMed: Conter et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/- 1 - c.123C>G - r.(=) p.(=) 12% g.6645377G>C - - - GLDC_000403 There is now experimental prove it does not affect function. - - Unknown ? - - - - Julia Lopez
+/. 1 1 c.128delA - r.(?) p.(Asp43Alafs*48) - g.6645372delT - - - GLDC_000365 - - - Germline yes - - - - Johan Van Hove
+?/+? 1 1 c.176G>C - r.(176g>c) p.(Arg59Thr) - g.6645324C>G - - - GLDC_000011 1 GCE family PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 1 1 c.209C>G - r.(?) p.(Pro70Arg) - g.6645291G>C - - - GLDC_000364 - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.236T>C - r.(?) p.(Leu79Pro) - g.6645264A>G - - - GLDC_000363 - - - Germline yes - - - - Johan Van Hove
+/. 1 1 c.245T>C - r.(?) p.(Leu82Ser) - g.6645255A>G - - - GLDC_000362 - - - Germline yes - - - - Johan Van Hove
+/+ 1 1 c.245T>G - r.245u>g p.Leu82Trp - g.6645255A>C - - - GLDC_000073 1 Japanese GCE patient (com-het) PubMed: Kure et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 1i c.255+1G>A - r.spl? p.? - g.6645244C>T - - - GLDC_000012 1 GCE family PubMed: Kure et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 1 1i c.255+3A>T - r.spl? p.? - g.6645242T>A - IVS1+3A>T - GLDC_000361 - - - Germline yes - - - - Johan Van Hove
+/. 1 1i c.256-7A>G - r.(=) p.(=) - g.6644699T>C - IVS1-7A>G - GLDC_000360 - - - Germline yes - - - - Johan Van Hove
+/. 2 1i c.256-3T>G - r.spl? p.? - g.6644695A>C - IVS1-3T>G - GLDC_000359 - - - Germline yes - - - - Johan Van Hove
+/. 1 1i_2i c.(255+1_256-1)_(334+1_335-1)del - r.? p.? - g.(6620320_6644613)_(6644693_6645244)del - - - GLDC_000356 - - - Germline yes - - - - Johan Van Hove
+/. 1 1i_15i c.(255+1_256-1)_(1850+1_1851-1)dup - r.? p.? - g.(6565430_6587140)_(6644693_6645244)del - - - GLDC_000123 - - - Germline yes - - - - Johan Van Hove
+/. 2 2i c.334+1G>T - r.spl? p.? - g.6644613C>A - IVS2+1G>T, p.IVS2+1G>T - GLDC_000358 - - - Germline yes - - - - Johan Van Hove
+/. 1 2i c.334+5G>A - r.spl? p.? - g.6644609C>T - IVS2+5G>A - GLDC_000357 - - - Germline yes - - - - Johan Van Hove
+/. 1 2i_3i c.(334+1_335-1)_(470+1_471-1)del - r.? p.? - g.(6610357_6620183)_(6620320_6644613)del - - - GLDC_000346 - - - Germline yes - - - - Johan Van Hove
+/. 1 2i_3i c.(334+1_335-1)_(470+1_471-1)del - r.? p.? - g.(6610357_6620183)_(6620320_6644613)del - - - GLDC_000346 - - - Germline yes - - - - Johan Van Hove
+/. 2 2i_3i c.(334+1_335-1)_(470+1_471-1)dup - r.? p.? - g.(6610357_6620183)_(6620320_6644613)del - - - GLDC_000346 - - - Germline yes - - - - Johan Van Hove
+/. 1 2i_3i c.(334+1_335-1)_(470+1_471-1)dup - r.? p.? - g.(6610357_6620183)_(6620320_6644613)del - - - GLDC_000346 - - - Germline yes - - - - Johan Van Hove
+/+ 1 2i_4i c.(334+1_335-1)_(635+1_636-1)del - r.? p.? - g.(?_6610192)_(6620319_?)del - - - GLDC_000017 1 Oriental GCE family PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/., +/+ 2 2i_8i c.(334+1_335-1)_(1155+1_1156-1)del - r.? p.? - g.(6595120_6602108)_(6620320_6644613)del, g.(?_6602109)_(6620319_?)del - del Exons 3-8 - GLDC_000013 1 Oriental GCE family PubMed: Kanno et al. 2007 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/., +/+ 4 2i_9i c.(334+1_335-1)_(1261+1_1262-1)del - r.? p.? - g.(6592991_6595013)_(6620320_6644613)del, g.(?_6595014)_(6620319_?)del - del Exons 3-9 - GLDC_000014 1 Oriental GCE family PubMed: Kanno et al. 2007 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/+ 1 2i_15i c.(334+1_335-1)_(1850+1_1851-1)del - r.335_1850del p.(Cys112Serfs*17) - g.(?_6587141)_(6620319_?)del - del Exons 3–15: skipping from exon 2 to exon 16 - GLDC_000015 1 GCE patient (Patient 1; com-het) PubMed: Sellner et al. 2005 - SUMMARY record yes - - - - Anne Polvi
+/. 1 2i_15i c.(334+1_335-1)_(1850+1_1851-1)dup - r.? p.? - g.(6565430_6587140)_(6620320_6644613)del - - - GLDC_000224 - - - Germline yes - - - - Johan Van Hove
+/. 1 2i_15i c.(334+1_335-1)_(1850+1_1851-1)dup - r.? p.? - g.(6565430_6587140)_(6620320_6644613)del - - - GLDC_000224 - - - Germline yes - - - - Johan Van Hove
+/., +/+ 14 2i_21i c.(334+1_335-1)_(2569+1_2570-1)del - r.? p.? - g.(6540147_6550802)_(6620320_6644613)del, g.(?_6550803)_(6620319_?)del - del Exons 3-21 - GLDC_000016 1 Caucasian GCE family PubMed: Kanno et al. 2007 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/+ 1 2i_22i c.(334+1_335-1)_(2665+1_2666-1)del - r.? p.? - g.(?_6540051)_(6620319_?)del - del Exons 3-22 - GLDC_000018 1 caucasian GCE family PubMed: Kanno et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+/. 2 2i_25_ c.(334+1_335-1)_(3063+1_3064-1)del - r.? p.? - g.(?_6533016)_(6620320_6644613)del - - - GLDC_000401 - - - Germline yes - - - - Johan Van Hove
+/. 1 3 c.355_362del - r.(?) p.(Thr119Cysfs*19) - g.6620292_6620299del - 355-362del8 - GLDC_000114 - - - Germline yes - - - - Johan Van Hove
+/. 1 3 c.382C>T - r.(?) p.(Gln128*) - g.6620272G>A - - - GLDC_000355 - - - Germline yes - - - - Johan Van Hove
+/. 4 3 c.391A>T - r.(?) p.(Arg131*) - g.6620263T>A - - - GLDC_000354 - - - Germline yes - - - - Johan Van Hove
+?/+?, +/. 2 3 c.395C>G - r.(395c>g), r.(?) p.(Ser132Trp) - g.6620259G>C - - - GLDC_000019 1 GCE patient PubMed: Conter et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 8 3 c.395C>T - r.(?) p.(Ser132Leu) - g.6620259G>A - - - GLDC_000353 - - - Germline yes - - - - Johan Van Hove
+/. 1 3 c.404G>A - r.(?) p.(Gly135Asp) - g.6620250C>T - - - GLDC_000352 - - - Germline yes - - - - Johan Van Hove
+/. 1 3 c.412T>G - r.(?) p.(Tyr138Asp) - g.6620242A>C - - - GLDC_000351 - - - Germline yes - - - - Johan Van Hove
+?/+? 1 3 c.413A>T - r.(413a>u) p.(Tyr138Phe) - g.6620241T>A - - - GLDC_000020 1 GCE patient PubMed: Conter et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 2 3 c.437C>A - r.(?) p.(Thr146Lys) - g.6620217G>T - - - GLDC_000350 - - - Germline yes - - - - Johan Van Hove
+/+ 1 3 c.449A>C - r.449a>c p.Asn150Thr - g.6620205T>G - - - GLDC_000021 1 Japanese GCE patient (com-het) PubMed: Kure et al. 2003 - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 2 3 c.457G>T - r.(457g>u), r.(?) p.(Glu153*) - g.6620197C>A - - - GLDC_000023 1 GCE patient (com-het) PubMed: Conter et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 3 c.466G>C - r.(?) p.(Gly156Arg) - g.6620188C>G - - - GLDC_000349 - - - Germline yes - - - - Johan Van Hove
+/. 2 3i c.470+1G>A - r.spl? p.? - g.6620183C>T - IVS3+1G>A - GLDC_000348 - - - Germline yes - - - - Johan Van Hove
+/. 1 3i c.470+1G>C - r.spl? p.? - g.6620183C>G - IVS3+1G>C - GLDC_000347 - - - Germline yes - - - - Johan Van Hove
+/. 2 3i_25_ c.(470+1_471-1)_(*1_?)del - r.? p.? - g.(?_6533016)_(6610357_6620183)del - - - GLDC_000025 - - - Germline yes - - - - Johan Van Hove
+/. 5 3i_4i c.(470+1_471-1)_(635+1_636-1)del - r.? p.? - g.(6606670_6610191)_(6610357_6620183)del - - - GLDC_000330 - - - Germline yes - - - - Johan Van Hove
+/. 1 3i_8i c.(470+1_471-1)_(1155+1_1156-1)del - r.? p.? - g.(6595120_6602108)_(6610357_6620183)del - - - GLDC_000279 - - - Germline yes - - - - Johan Van Hove
+/. 1 3i_9i c.(470+1_471-1)_(1261+1_1262-1)del - r.? p.? - g.(6592991_6595013)_(6610357_6620183)del - - - GLDC_000269 - - - Germline yes - - - - Johan Van Hove
+/. 2 3i_15i c.(470+1_471-1)_(1850+1_1851-1)del - r.? p.? - g.(6565430_6587140)_(6610357_6620183)del - - - GLDC_000223 - - - Germline yes - - - - Johan Van Hove
+/+?, +/. 5 4 c.482A>G - r.(482a>g), r.(?) p.(Tyr161Cys) - g.6610345T>C - - - GLDC_000024 2 Palestinian Arab sibs (hom) with GCE PubMed: Korman et al. 2006 - SUMMARY record, Germline yes 0/64 CONT - - - Anne Polvi, Johan Van Hove
+/. 1 4 c.492C>G - r.(?) p.(Tyr164*) - g.6610335G>C - - - GLDC_000345 - - - Germline yes - - - - Johan Van Hove
+/. 12 4 c.499G>T - r.(?) p.(Glu167*) - g.6610328C>A - 499G>T_501G>A - GLDC_000344 - - - Germline yes - - - - Johan Van Hove
-?/. 1 4 c.501G>A - r.(=) p.(Glu167=) - g.6610326C>T - 499G>T_501G>A - GLDC_000112 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.505T>C - r.(?) p.(Ser169Pro) - g.6610322A>G - - - GLDC_000343 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.511G>T - r.(?) p.(Gly171Trp) - g.6610316C>A - - - GLDC_000342 - - - Germline yes - - - - Johan Van Hove
+?/-?, +/. 2 4 c.513G>C - r.(513g>c), r.(=) p.(=) - g.6610314C>G - c.513G>C: p.G171A - GLDC_000026 1 Swiss GCE patient (com-het) PubMed: Conter et al. 2006 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 1 4 c.518T>C - r.(?) p.(Leu173Pro) - g.6610309A>G - - - GLDC_000341 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.527delT - r.(?) p.(Leu176Tyrfs*55) - g.6610300delA - - - GLDC_000340 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.535T>A - r.(?) p.(Tyr179Asn) - g.6610292A>T - - - GLDC_000339 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.538C>T - r.(?) p.(Gln180*) - g.6610289G>A - - - GLDC_000338 - - - Germline yes - - - - Johan Van Hove
+/. 2 4 c.547delG - r.(?) p.(Val183Cysfs*48) - g.6610280delC - - - GLDC_000337 - - - Germline yes - - - - Johan Van Hove
+/., +?/+? 5 4 c.560C>A - r.(?), r.(560c>a) p.(Thr187Lys) - g.6610267G>T - - - GLDC_000027 1 Turkish GCE patient (hom) PubMed: Conter et al. 2006 - Germline, SUMMARY record yes - - - - Johan Van Hove, Anne Polvi
+/. 1 4 c.582_589del - r.(?) p.(Ser195Glyfs*2) - g.6610238_6610245del - 582_589del8 - GLDC_000336 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.594T>A - r.(?) p.(Asp198Glu) - g.6610233A>T - - - GLDC_000335 - - - Germline yes - - - - Johan Van Hove
+/. 3 4 c.600delG - r.(?) p.(Thr201Leufs*30) - g.6610227delC - - - GLDC_000334 - - - Germline yes - - - - Johan Van Hove
+/., +?/+? 6 4 c.605C>T - r.(?), r.(605c>u) p.(Ala202Val) - g.6610222G>A - - - GLDC_000028 1 Caucasian GCE patient (hom) PubMed: Brunel-Guitton et al 2011 - Germline, SUMMARY record yes 0/50 CONT - - - Johan Van Hove, Anne Polvi
+/. 1 4 c.608C>T - r.(?) p.(Ala203Val) - g.6610219G>A - - - GLDC_000333 - - - Germline yes - - - - Johan Van Hove
+/. 1 4 c.610_611delinsTT - r.(?) p.(Ala204Leu) - g.6610216_6610217delinsAA - 610_611GC>TT - GLDC_000332 - - - Germline yes - - - - Johan Van Hove
+?/+? 1 4 c.635G>A - r.[635g>a, spl?] p.[Arg212Lys, p.?] - g.6610192C>T - - - GLDC_000029 1 French GCE patient (het) PubMed: Conter et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+/. 2 4i c.636-1G>C - r.spl? p.? - g.6606670C>G - IVS4-1G>C - GLDC_000329 - - - Germline yes - - - - Johan Van Hove
+/. 2 4i_5i c.(635+1_636-1)_(713+1_714-1)del - r.? p.? - g.(6605279_6606591)_(6606670_6610191)del - - - GLDC_000325 - - - Germline yes - - - - Johan Van Hove
+/+, +/. 3 4i_8i c.(635+1_636-1)_(1155+1_1156-1)del - r.? p.? , p.? - g.(?_6602109)_(6606669_?)del, g.(6595120_6602108)_(6606670_6610191)del - del Exons 5-8 - GLDC_000022 1 Caucasian GCE family (com-het) PubMed: Kanno et al. 2007 - SUMMARY record, Germline yes - - - - Anne Polvi, Johan Van Hove
+/. 2 4i_15i c.(635+1_636-1)_(1850+1_1851-1)del - r.? p.? - g.(6565430_6587140)_(6606670_6610191)del - - - GLDC_000222 - - - Germline yes - - - - Johan Van Hove
+/. 2 5 c.700C>T - r.(?) p.(Gln234*) - g.6606605G>A - - - GLDC_000328 - - - Germline yes - - - - Johan Van Hove
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