All transcript variants in gene APC

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

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

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     
+/+ - c.(?) r.(?) p.(?) g.(?_112073556)_(112137081_112151191)del - APC_000172 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_112073556)_(112137081_112151191)del - APC_000172 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_112073556)_(112137081_112151191)del - APC_000172 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.(?) r.(?) p.(?) g.(?_112073556)_(112181936_?)del - APC_000172 - Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.? r.0 p.0 g.(?_112073556)_(112181936_?)del - APC_000172 - Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.? r.0 p.0 g.(?_112073556)_(112181936_?)del - APC_000172 - Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
+/+ - c.? r.0 p.0 g.(?_112073556)_(112181936_?)del - APC_000172 - Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou
?/? - c.166-11421A>G r.(=) p.(=) g.112090602A>G - APC_000063 - - Germline - - - - Despoina Kalfakakou
?/? - c.166-48T>C r.(=) p.(=) g.112101975T>C - APC_000056 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.166-18T>C r.(=) p.(=) g.112102005T>C - APC_000066 rs1261769588 - Germline - - - - Despoina Kalfakakou
?/? - c.213T>C r.(=) p.(=) g.112102070T>C - APC_000090 - - Germline - - - - Despoina Kalfakakou
?/? - c.227T>C r.(?) p.(Ile76Thr) g.112102084T>C - APC_000067 - - Germline - - - - Despoina Kalfakakou
?/? - c.227T>C r.(?) p.(Ile76Thr) g.112102084T>C - APC_000067 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+47G>A r.(=) p.(=) g.112102154G>A - APC_000051 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.251-29G>C r.(=) p.(=) g.112102857G>C - APC_000048 rs369645686 - Germline - - - - Despoina Kalfakakou
-?/-? - c.251-29G>C r.(=) p.(=) g.112102857G>C - APC_000048 rs369645686 - Germline - - - - Despoina Kalfakakou
-?/-? - c.251-29G>C r.(=) p.(=) g.112102857G>C - APC_000048 rs369645686 - Germline - - - - Despoina Kalfakakou
?/? - c.251-27A>C r.(=) p.(=) g.112102859A>C - APC_000046 - - Germline - - - - Despoina Kalfakakou
?/? - c.251-27A>C r.(=) p.(=) g.112102859A>C - APC_000046 - - Germline - - - - Despoina Kalfakakou
?/? - c.307C>G r.(?) p.(Leu103Val) g.112102942C>G - APC_000080 rs201567345 - Germline - - - - Despoina Kalfakakou
?/? - c.337G>C r.(?) p.(Val113Leu) g.112102972G>C - APC_000029 rs758995578 - Germline - - - - Despoina Kalfakakou
?/? - c.337G>C r.(?) p.(Val113Leu) g.112102972G>C - APC_000029 rs758995578 - Germline - - - - Despoina Kalfakakou
+/+ - c.371del r.(?) p.(Pro124Leufs*11) g.112103006del Fostira et al (2010) APC_000138 rs1064793021 - Germline ? - - - Despoina Kalfakakou
?/? - c.452+4A>G r.spl? p.? g.112103091A>G - APC_000073 - - Germline - - - - Despoina Kalfakakou
?/? - c.452+37A>C r.(=) p.(=) g.112103124A>C - APC_000087 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 rs534684461 - Germline - - - - Despoina Kalfakakou
-?/-? - c.489G>A r.(=) p.(=) g.112111362G>A - APC_000122 rs864622482 - Germline - - - - Despoina Kalfakakou
+/+ - c.539_542del r.(?) p.(Asp180Valfs*4) g.112111412_112111415del - APC_000156 rs387906231 - Germline ? - - - Despoina Kalfakakou
+/+ - c.539_542del r.(?) p.(Asp180Valfs*4) g.112111412_112111415del - APC_000156 rs387906231 - Germline ? - - - Despoina Kalfakakou
+/+ - c.550_553del r.(?) p.(Thr185Lysfs*9) g.112111423_112111426del Fostira et al (2010) APC_000141 - - Germline ? - - - Despoina Kalfakakou
?/? - c.561+45G>A r.(=) p.(=) g.112111479G>A - APC_000107 - - Germline - - - - Despoina Kalfakakou
?/? - c.562-37C>T r.(=) p.(=) g.112116450C>T - APC_000013 - - Germline - - - - Despoina Kalfakakou
?/? - c.562-30T>C r.(=) p.(=) g.112116457T>C - APC_000020 - - Germline - - - - Despoina Kalfakakou
?/? - c.562-19_562-17del r.(=) p.(=) g.112116468_112116470del - APC_000089 - - Germline - - - - Despoina Kalfakakou
+/+ - c.562-1G>A r.spl? p.? g.112116486G>A - APC_000148 rs1554072547 - Germline ? - - - Despoina Kalfakakou
+/+ - c.562-1G>A r.spl? p.? g.112116486G>A - APC_000148 rs1554072547 - Germline ? - - - Despoina Kalfakakou
+/+ - c.562-1G>A r.spl? p.? g.112116486G>A - APC_000148 rs1554072547 - Germline ? - - - Despoina Kalfakakou
+/+ - c.667C>T r.(?) p.(Arg223*) g.112116592C>T - APC_000052 rs587781392 - Germline - - - - Despoina Kalfakakou
+/+ - c.676-8785C>T r.(=) p.(=) g.112128191C>T Fostira et al (2010) APC_000126 rs397515734 - Germline ? - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 rs147036141 - Germline - - - - Despoina Kalfakakou
?/? - c.676-8729G>C r.(=) p.(=) g.112128247G>C - APC_000104 - - Germline - - - - Despoina Kalfakakou
?/? - c.676-37_676-26del r.(=) p.(=) g.112136939_112136950del - APC_000171 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
-?/-? - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 rs115634618 - Germline - - - - Despoina Kalfakakou
+/+ - c.676_677del r.(?) p.(Arg226Valfs*7) g.112136976_112136977del - APC_000152 rs387906228 - Germline ? - - - Despoina Kalfakakou
-?/-? - c.702C>T r.(=) p.(=) g.112137002C>T - APC_000108 rs771535363 - Germline - - - - Despoina Kalfakakou
-?/-? - c.705C>G r.(=) p.(=) g.112137005C>G - APC_000021 rs746850663 - Germline - - - - Despoina Kalfakakou
?/? - c.721C>T r.(?) p.(Arg241Trp) g.112137021C>T - APC_000121 rs762117133 - Germline - - - - Despoina Kalfakakou
?/? - c.780+5A>G r.spl? p.? g.112137085A>G - APC_000095 - - Germline - - - - Despoina Kalfakakou
+/+ - c.781-8A>G r.(=) p.(=) g.112151184A>G Fostira et al (2010) APC_000140 - - Germline ? - - - Despoina Kalfakakou
?/? - c.879+19C>T r.(=) p.(=) g.112151309C>T - APC_000096 - - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
-/- - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 rs145211300 - Germline - - - - Despoina Kalfakakou
+/+ - c.1180C>T r.(?) p.(Gln394*) g.112154963C>T Fostira et al (2010) APC_000127 - - Germline ? - - - Despoina Kalfakakou
?/? - c.1186C>T r.(?) p.(Arg396Cys) g.112154969C>T - APC_000023 rs137854567 - Germline - - - - Despoina Kalfakakou
+/+ - c.1209G>A r.(?) p.(Trp403*) g.112154992G>A Fostira et al (2010) APC_000139 rs1554080106 - Germline ? - - - Despoina Kalfakakou
+/+ - c.1258+1G>C r.spl? p.? g.112155042G>C - APC_000157 rs863225310 - Germline ? - - - Despoina Kalfakakou
?/? - c.1258+23C>A r.(=) p.(=) g.112155064C>A - APC_000164 - - Germline - - - - Despoina Kalfakakou
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