Unique variants in the APC gene

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

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
-/- 1 5'UTR c.-30257T>G r.(=) p.(=) Hetero no RECLASSIFIED OCTOBER 2017 g.112707687T>G - APC_000020 - NM_001127511.2: c.-31T>G Alejandra Mampel-COIR
+/+ 1 ? Deletion (Promoter 1B) r.? p.? Hetero N/A - g.? - APC_000045 - - Maria Laura Gonzalez-Hospital Italiano
+/+ 1 15-16 Exon 15-16 deletion r.(?) p.(?) Hetero N/A - g.(?) - APC_000045 - - Jesica Ramirez-Hospital Central de Mendoza
?/. 1 2 c.116C>A r.(?) p.(Thr39Asn) Hetero APC;DIS3L2 - g.112755006C>A - APC_000044 - - Jesica Ramirez-Hospital Central de Mendoza
-/- 2 1i c.136-53T>C r.(=) p.(=) Hetero, Homo no - g.112766273T>C - APC_000015 - - Maria Laura Gonzalez-Hospital Italiano
?/? 1 3 c.197T>C r.(197u>c) p.(Ile66Thr) Hetero no - g.112766387T>C - APC_000063 - - Laura Vargas Roig-IMBECU
-/- 1 3i c.423-16A>T r.(=) p.(=) Hetero no - g.112775613A>T - APC_000017 - - Alejandra Mampel-COIR
-/- 1 4i c.423-4delA r.? p.? Hetero APC - g.112775625delA - APC_000005 - - Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 1 5 c.509_512del r.(509_512del) p.(Asp170Valfs*4) Hetero N/A - g.112775715_112775718del - APC_000060 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 1 5 c.509_512delATAG r.(?) p.(Asp170Valfs*4) Hetero N/A - g.112775715_112775718delATAG - APC_000012 - - Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 1 4i c.532-1G>A r.spl? p.? Hetero N/A - g.112780789G>A - APC_000050 - - Marcela Lopez - Instituto Donna
+/+? 1 6 c.574G>T r.(574g>u) p.(Glu192*) Hetero N/A - g.112780832G>T - APC_000059 - - Claudia Martin-Hospital de Córdoba
-?/- 1 5 c.607C>G r.(?) p.(Gln203Glu) Hetero no RECLASSIFIED JULY 2022 g.112780865C>G - APC_000028 - - Laura Vargas Roig-IMBECU
?/? 1 7 c.772G>A r.(?) p.(Glu258Lys) Hetero no - g.112801321G>A - APC_000053 - - Cecilia Montes-IMGO
?/? 2 9 c.905G>A r.(?) p.(Arg302Gln) Hetero no - g.112815565G>A - APC_000038 - - Yolanda Medina-Hospital de la Madre y el Niño, Pablo Kalfayan-Hospital Italiano
+/+? 1 10 c.961dup r.(961dup) p.(Met321Asnfs*6) Hetero no - g.112818993dup - APC_000064 - - Maria Laura Gonzalez-Hospital Italiano
+/+ 1 10 c.994C>T r.(?) p.(Arg332*) Hetero N/A - g.112819026C>T - APC_000031 - - Pablo Kalfayan-Hospital Italiano
?/? 1 10 c.1283A>G r.(?) p.(Glu428Gly) Hetero no - g.112819315A>G - APC_000039 - - Jesica Ramirez-Hospital Central de Mendoza
-/- 13 11, 12 c.1458T>C r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112827157T>C - APC_000006 rs2229992 APC(NM_001127511.3):c.1458T>C p.(Ala486=) Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Maria Laura Gonzalez-Hospital Italiano, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
?/? 1 13 c.1580G>C r.(1337g>a) p.Arg527Thr Hetero no - g.112827960G>C - APC_000071 rs1554081889 - Yolanda Isabel Medina - Hospital Juan D. Perón
?/? 1 13 c.1621C>A r.(?) p.(Gln541Lys) Hetero no - g.112828001C>A - APC_000046 - - Silvina Sisterna-Hospital de Comunidad
-/- 16 13, 14 c.1635G>A r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112828864G>A - APC_000007 rs351771 NM_001127510.3 c.1635G>A p.(Ala545=) Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
-/- 1 14i c.1958+8T>C r.(=) p.(=) Hetero no RECLASSIFIED JUNE 2019 g.112835173T>C - APC_000018 - - Alejandra Mampel-COIR
?/? 1 16 c.1994T>C r.(1994u>c) p.(Leu665Ser) Unknown no - g.112837588T>C - APC_000066 - Possible mosaicism Claudia Martin-Hospital de Córdoba
+/+ 1 15 c.1994T>G r.(?) p.(Leu665*) Hetero MUTYH - g.112837588T>G - APC_000035 - - Jesica Ramirez-Hospital Central de Mendoza
+/+? 1 15 c.2385_2386delCT r.(?) p.(Tyr796Trpfs*2) Hetero no - g.112837979_112837980delCT - APC_000051 - - Marcela Lopez-CEMAFE
+/+? 1 15 c.2520dup r.(?) p.(Asp842Argfs*2) Hetero N/A RECLASSIFIED JULY 2022 g.112838114dup - APC_000022 - - Maria Laura Gonzalez-Hospital Italiano
?/? 1 15 c.2995C>G r.(?) p.(Gln999Glu) Hetero no - g.112838589C>G - APC_000049 - - Pablo Kalfayan-Hospital Italiano
+/+ 1 15 c.3183_3187del r.(?) p.(Gln1062*) Hetero N/A - g.112838777_112838781del - APC_000033 - - Maria Laura Gonzalez-Hospital Italiano
?/? 1 16 c.3193C>A r.(3193c>a) p.(Gln1065Lys) Hetero no - g.112838787C>A - APC_000055 - - Pablo Kalfayan-Hospital Italiano
?/- 1 15 c.3386T>C r.(?) p.(Leu1129Ser) Hetero no - g.112838980T>C - APC_000037 - - Laura Vargas Roig-IMBECU
?/? 1 16 c.3629A>T r.(3629a>u) p.(His1210Leu) Hetero no - g.112839223A>T - APC_000061 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 1 15 c.3815C>G r.(?) p.(Ser1272*) Hetero N/A - g.112839409C>G - APC_000026 - - Pablo Kalfayan-Hospital Italiano
+?/+?, +?/? 7 16 c.3920T>A r.(?), r.(3920u>a) p.(Ile1307Lys) Homo, Hetero no, BRCA2, MSH6 RISK FACTOR, RECLASSIFIED JULY 2022. RISK FACTOR g.112839514T>A - APC_000032 - - Lina Nuñez-Private Practice, Cecilia Montes-IMGO, Lina Nuñez-Hospital Alemán, Pablo Kalfayan-Hospital Italiano
./+?, +/+? 4 15 c.4183dupA r.(?) p.(Ser1395Lysfs*3) Hetero no - g.112839777dupA - APC_000052 - - Marcela Lopez-CEMAFE
?/? 1 15 c.4196G>A r.(?) p.(Arg1399His) Hetero no - g.112839790G>A - APC_000042 - - Silvina Sisterna-Hospital de Comunidad
-?/-, -/- 2 15 c.4326T>A r.(=) p.(=) Hetero no, APC RECLASSIFIED JUNE 2019 g.112839920T>A - APC_000023 - - Gonzalo Tabares-CEMA, Maria Laura Gonzalez-Hospital Italiano
-?/- 1 15 c.4360A>G r.(?) p.(Lys1454Glu) Hetero no RECLASSIFIED JULY 2022 g.112839954A>G - APC_000029 - - Laura Vargas Roig-IMBECU
?/? 1 15 c.4361A>T r.(?) p.(Lys1454Ile) Hetero no RECLASSIFIED JUNE 2019 g.112839955A>T - APC_000027 - - Maria Laura Gonzalez-Hospital Italiano
?/-? 2 15 c.4370C>T r.(?) p.(Ala1457Val) Hetero no - g.112839964C>T - APC_000043 - - Jesica Ramirez-Hospital Central de Mendoza
-/- 15 15 c.4479G>A r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112840073G>A - APC_000008 - - Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
+/+ 1 16 c.4508C>A r.(4508c>a) p.(Ser1503*) Hetero N/A - g.112840102C>A - APC_000057 - - Maria Laura Gonzalez-Hospital Italiano
?/? 1 16 c.4833G>C r.(4833g>c) p.Gln1611His Hetero BRCA2 - g.112840427G>C - APC_000056 - - Silvina Sisterna-Hospital de Comunidad
-?/- 1 15 c.4893T>C r.(=) p.(=) Hetero no - g.112840487T>C - APC_000030 - - Laura Vargas Roig-IMBECU
-/- 16 15, 16 c.5034G>A r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112840628G>A - APC_000009 rs42427 APC(NM_001127511.3):c.4980G>A p.(Gly1660=) Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
-/- 16 15, 16 c.5268T>G r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112840862T>G - APC_000013 rs866006 c.5214T>G p.(Ser1738=) Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
?/? 1 16 c.5283C>A r.(5283c>a) p.(Asn1761Lys) Hetero no - g.112840877C>A - APC_000058 - - Cecilia Montes-IMGO
-/- 16 15, 16 c.5465T>A r.(?) p.(Val1822Asp) Hetero, Homo no, APC, MUTYH - g.112841059T>A - APC_000002 rs459552 APC(NM_000038.6):c.5411T>A p.(Val1804Asp) Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
?/? 1 16 c.5560T>C r.(5560u>c) p.(Tyr1854His) Unknown no - g.112841154T>C - APC_000067 - Possible mosaicism Claudia Martin-Hospital de Córdoba
?/? 1 18 c.5578G>A r.(?) p.(Asp1860Asn) Hetero BRCA2 - g.112841172G>A - APC_000048 - - Maria Constanza Vallone-Hospital Austral
+/+ 1 16 c.5813_5814del r.(?) p.(Lys1938Argfs*10) Hetero N/A - g.112841407_112841408del - APC_000036 - - Silvina Sisterna-Hospital de Comunidad
-/- 16 15, 16 c.5880G>A r.(=) p.(=) Hetero, Homo no, APC, MUTYH - g.112841474G>A - APC_000011 rs465899 NM_001127511.3 c.5826G>A p.(Pro1942=) Silvina Sisterna-Hospital de Comunidad, Maria Laura Gonzalez-Hospital Italiano, Lina Nuñez-Private Practice, Alejandra Mampel-Hospital Universitario de Mendoza, Laura Vargas Roig-IMBECU, Pablo Kalfayan-CEMIC, Alejandra Mampel-COIR
?/. 1 16 c.5975C>T r.(?) p.(Pro1992Leu) Unknown no - g.112841569C>T - APC_000014 - - Lina Nuñez-Private Practice
?/? 1 16 c.5981A>T r.(?) p.(Asp1994Val) Hetero no - g.112841575A>T - APC_000025 - - Lina Nuñez-Private Practice
?/? 1 18 c.6649C>T r.(?) p.(Leu2217Phe) Hetero RAD51C - g.112842243C>T - APC_000047 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 16 c.6713A>G r.(6713a>g) p.(Asn2238Ser) Hetero no - g.112842307A>G - APC_000054 - - Lina Nuñez-Hospital Alemán
?/- 1 15 c.6821C>T r.(?) p.(Ala2274Val) Hetero no RECLASSIFIED JULY 2022 g.112842415C>T - APC_000021 - - Maria Laura Gonzalez-Hospital Italiano
?/? 1 15 c.6958C>T r.(?) p.(Pro2320Ser) Hetero no - g.112842552C>T - APC_000019 - - Alejandra Mampel-COIR
-?/- 1 16 c.7201C>T r.(=) p.(=) Hetero no - g.112842795C>T - APC_000041 - - Laura Vargas Roig-IMBECU
-/-, -/-? 3 15 c.7504G>A r.(?) p.(Gly2502Ser) Hetero no RECLASSIFIED NOVEMBER 2020 g.112843098G>A - APC_000024 - - Laura Vargas Roig-IMBECU
?/? 1 16 c.7645C>T r.(?) p.(Arg2549Cys) Hetero no - g.112843239C>T - APC_000034 - - Marina Antelo-Hospital Udaondo
-/- 3 3'UTR c.*86C>A r.(=) p.(=) Homo, Hetero no - g.112844212C>A - APC_000016 - - Maria Laura Gonzalez-Hospital Italiano
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