Unique variants in gene APC

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

170 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
+/+ 7 - c.(?), c.? r.(?), r.0 p.(?), p.0 g.(?_112073556)_(112137081_112151191)del, g.(?_112073556)_(112181936_?)del - APC_000172 - 2 more items Germline - APC whole gene deletion - - Despoina Kalfakakou
?/? 1 - c.166-11421A>G r.(=) p.(=) g.112090602A>G - APC_000063 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.166-48T>C r.(=) p.(=) g.112101975T>C - APC_000056 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.166-18T>C r.(=) p.(=) g.112102005T>C - APC_000066 rs1261769588 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.213T>C r.(=) p.(=) g.112102070T>C - APC_000090 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.227T>C r.(?) p.(Ile76Thr) g.112102084T>C - APC_000067 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.250+47G>A r.(=) p.(=) g.112102154G>A - APC_000051 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.251-29G>C r.(=) p.(=) g.112102857G>C - APC_000048 rs369645686 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.251-27A>C r.(=) p.(=) g.112102859A>C - APC_000046 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.307C>G r.(?) p.(Leu103Val) g.112102942C>G - APC_000080 rs201567345 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.337G>C r.(?) p.(Val113Leu) g.112102972G>C - APC_000029 rs758995578 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.371del r.(?) p.(Pro124Leufs*11) g.112103006del Fostira et al (2010) APC_000138 rs1064793021 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.452+4A>G r.spl? p.? g.112103091A>G - APC_000073 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.452+37A>C r.(=) p.(=) g.112103124A>C - APC_000087 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.489G>A r.(=) p.(=) g.112111362G>A - APC_000122 rs864622482 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.539_542del r.(?) p.(Asp180Valfs*4) g.112111412_112111415del - APC_000156 rs387906231 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.550_553del r.(?) p.(Thr185Lysfs*9) g.112111423_112111426del Fostira et al (2010) APC_000141 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.561+45G>A r.(=) p.(=) g.112111479G>A - APC_000107 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.562-37C>T r.(=) p.(=) g.112116450C>T - APC_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.562-30T>C r.(=) p.(=) g.112116457T>C - APC_000020 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.562-19_562-17del r.(=) p.(=) g.112116468_112116470del - APC_000089 - - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.562-1G>A r.spl? p.? g.112116486G>A - APC_000148 rs1554072547 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.667C>T r.(?) p.(Arg223*) g.112116592C>T - APC_000052 rs587781392 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.676-8785C>T r.(=) p.(=) g.112128191C>T Fostira et al (2010) APC_000126 rs397515734 - Germline ? - - - Despoina Kalfakakou
-?/-? 19 - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.676-8729G>C r.(=) p.(=) g.112128247G>C - APC_000104 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.676-37_676-26del r.(=) p.(=) g.112136939_112136950del - APC_000171 - - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.676_677del r.(?) p.(Arg226Valfs*7) g.112136976_112136977del - APC_000152 rs387906228 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.702C>T r.(=) p.(=) g.112137002C>T - APC_000108 rs771535363 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.705C>G r.(=) p.(=) g.112137005C>G - APC_000021 rs746850663 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.721C>T r.(?) p.(Arg241Trp) g.112137021C>T - APC_000121 rs762117133 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.780+5A>G r.spl? p.? g.112137085A>G - APC_000095 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.781-8A>G r.(=) p.(=) g.112151184A>G Fostira et al (2010) APC_000140 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.879+19C>T r.(=) p.(=) g.112151309C>T - APC_000096 - - Germline - - - - Despoina Kalfakakou
-/- 17 - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1180C>T r.(?) p.(Gln394*) g.112154963C>T Fostira et al (2010) APC_000127 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.1186C>T r.(?) p.(Arg396Cys) g.112154969C>T - APC_000023 rs137854567 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1209G>A r.(?) p.(Trp403*) g.112154992G>A Fostira et al (2010) APC_000139 rs1554080106 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.1258+1G>C r.spl? p.? g.112155042G>C - APC_000157 rs863225310 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.1258+23C>A r.(=) p.(=) g.112155064C>A - APC_000164 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1354+8A>G r.(=) p.(=) g.112157696A>G - APC_000062 rs1057523135 - Germline - - - - Despoina Kalfakakou
?/? 7 - c.1355-26T>G r.(=) p.(=) g.112162779T>G - APC_000024 rs9282598 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1363C>A r.(?) p.(Gln455Lys) g.112162813C>A - APC_000174 rs876658868 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.1441C>T r.(?) p.(Arg481*) g.112162891C>T Fostira et al (2010) APC_000130 rs137854580 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.1494+17T>C r.(=) p.(=) g.112162961T>C - APC_000116 rs367690523 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1535T>C r.(?) p.(Val512Ala) g.112163666T>C - APC_000083 rs202199891 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1565_1566insAA r.(?) p.(Gln523Asnfs*9) g.112163696_112163697insAA - APC_000053 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1566dupA r.(?) p.(Gln523Thrfs*19) g.112163697dupA - APC_000162 rs1131691555 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.1606C>T r.(?) p.(Arg536*) g.112164586C>T - APC_000160 rs137854573 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.1636C>T r.(?) p.(Arg546*) g.112164616C>T - APC_000158 rs137854574 - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.1694C>A r.(?) p.(Ser565*) g.112170652C>A - APC_000168 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.1778G>C r.(?) p.(Gly593Ala) g.112170736G>C - APC_000074 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1780G>A r.(?) p.(Ala594Thr) g.112170738G>A - APC_000025 rs1038707565 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1809T>C r.(=) p.(=) g.112170767T>C - APC_000106 rs72541808 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.1904+1G>T r.spl? p.? g.112170863G>T - APC_000143 rs1114167569 - Germline ? - - - Despoina Kalfakakou
-/- 25 - c.1905G>A r.(=) p.(=) g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1944dupA r.(?) p.(Gln649Thrfs*7) g.112173289dupA - APC_000163 - - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.2127_2128insG r.(?) p.(Asn710Glufs*6) g.112173472_112173473insG Fostira et al (2010) APC_000135 - - Germline ? - - - Despoina Kalfakakou
-?/-? 2 - c.2268C>T r.(=) p.(=) g.112173613C>T - APC_000011 rs145792879 - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.2298dupT r.(?) p.(His767Serfs*3) g.112173643dupT - APC_000155 - - Germline ? - - - Despoina Kalfakakou
+/+ 3 - c.2359C>T r.(?) p.(Arg787*) g.112173704C>T Fostira et al (2010) APC_000132 rs587779783 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.2368_2370del r.(?) p.(Asp790del) g.112173713_112173715del - APC_000077 rs587781469 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.2472_2475del r.(?) p.(Ser825Leufs*17) g.112173817_112173820del - APC_000047 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.2493_2496del r.(?) p.(Asp831Glufs*11) g.112173838_112173841del - APC_000154 rs398123118 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.2498G>T r.(?) p.(Ser833Ile) g.112173843G>T - APC_000012 rs1554084260 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.2532C>G r.(?) p.(Asn844Lys) g.112173877C>G - APC_000040 rs147972247 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.2539C>T r.(?) p.(Pro847Ser) g.112173884C>T - APC_000054 rs192620988 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2572C>T r.(?) p.(Arg858*) g.112173917C>T - APC_000146 rs121913333 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.2579T>A r.(?) p.(Leu860*) g.112173924T>A - APC_000169 - - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.2647C>T r.(?) p.(Gln883*) g.112173992C>T Fostira et al (2010) APC_000137 rs1114167559 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.2713A>T r.(?) p.(Arg905*) g.112174058A>T - APC_000150 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.2726C>G r.(?) p.(Ala909Gly) g.112174071C>G - APC_000044 rs587781500 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.2751C>A r.(?) p.(Tyr917*) g.112174096C>A - APC_000151 rs137854575 - Germline ? - - - Despoina Kalfakakou
-?/-? 7 - c.2751C>T r.(=) p.(=) g.112174096C>T - APC_000026 rs137854575 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2767G>T r.(?) p.(Glu923*) g.112174112G>T Fostira et al (2010) APC_000136 - - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.2807T>G r.(?) p.(Leu936*) g.112174152T>G - APC_000060 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2894T>A r.(?) p.(Ile965Asn) g.112174239T>A - APC_000119 rs113674464 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2937T>G r.(?) p.(Tyr979*) g.112174282T>G Fostira et al (2010) APC_000133 rs864622629 - Germline ? - - - Despoina Kalfakakou
-?/-? 3 - c.2952C>T r.(=) p.(=) g.112174297C>T - APC_000055 rs72541810 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.3079C>T r.(?) p.(Gln1027*) g.112174424C>T - APC_000144 - - Germline ? - - - Despoina Kalfakakou
-/- 1 - c.3111A>T r.(=) p.(=) g.112174456A>T - APC_000115 rs61734287 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.3119A>G r.(?) p.(Asp1040Gly) g.112174464A>G - APC_000118 rs148725540 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.3129_3133del r.(?) p.(Gln1044*) g.112174474_112174478del Fostira et al (2010) APC_000161 rs587779352 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.3135_3138del r.(?) p.(Glu1046Lysfs*61) g.112174480_112174483del Fostira et al (2010) APC_000134 - - Germline ? - - - Despoina Kalfakakou
+/+ 4 - c.3148_3151del r.(?) p.(Ser1050Glyfs*57) g.112174493_112174496del - APC_000145 - - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.3160del r.(?) p.(Ser1054Valfs*54) g.112174505del Fostira et al (2010) APC_000125 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.3191C>G r.(?) p.(Thr1064Ser) g.112174536C>G - APC_000109 rs730881244 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.3206_3207del r.(?) p.(Leu1069Glnfs*31) g.112174551_112174552del Fostira et al (2010) APC_000123 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.3314A>G r.(?) p.(Gln1105Arg) g.112174659A>G - APC_000041 rs587779789 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3323G>A r.(?) p.(Ser1108Asn) g.112174668G>A - APC_000042 rs767339739 - Germline - - - - Despoina Kalfakakou
?/? 8 - c.3332T>C r.(?) p.(Leu1111Ser) g.112174677T>C - APC_000027 rs143638171 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3346G>A r.(?) p.(Asp1116Asn) g.112174691G>A - APC_000088 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.3382C>T r.(?) p.(Arg1128Cys) g.112174727C>T - APC_000007 rs202168805 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.3406_3408del r.(?) p.(Glu1139del) g.112174751_112174753del - APC_000028 rs567584401 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.3417G>A r.(=) p.(=) g.112174762G>A - APC_000097 rs143927847 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.3457C>T r.(?) p.(Arg1153Cys) g.112174802C>T - APC_000008 rs201830995 - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.3584C>G r.(?) p.(Ser1195*) g.112174929C>G - APC_000142 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.3622A>G r.(?) p.(Lys1208Glu) g.112174967A>G - APC_000079 rs769504783 - Germline - - - - Despoina Kalfakakou
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