All variants in the APC gene

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

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 11 c.847C>T R283X r.(?) p.(Arg283*) - ClinVar g.112815507C>T R283X Lu Ping Tan et al. (2007)dbSNP APC_000008 rs786201856 1/16 - Nuur Athirah Binti Mohd Daud
+/. 9 c.847C>T R283∗ r.(?) p.(Arg283*) - ClinVar g.112815507C>T R283∗ Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000008 rs786201856 1/4 - Nuur Athirah Binti Mohd Daud
+/. - c.1500T>G Y482X, Y500X r.(?) p.(Tyr500*) - Pathogenic g.112827199T>G Y482X, Y500X dbSNP, (OMIM 0004), ClinVar APC_000030 rs387906230 1/10 - Nuur Athirah Binti Mohd Daud
-/. - c.1984_1985del 1984-1985delCT r.(?) p.(Leu662Thrfs*11) - - g.112837578_112837579del 1984-1985delCT Lu Ping Tan et al. (2007) APC_000015 rs587779121 1/16 - Nuur Athirah Binti Mohd Daud
+/. 16 c.2334_2337del N778fs r.(?) p.(Asn778Lysfs*41) - ClinVar g.112837928_112837931del N778fs Shafina-Nadiawati Abdul et al. (2017), dbSNP APC_000019 rs1580620655 1/9 - Nuur Athirah Binti Mohd Daud
+/. 16 c.2413C>T R805* r.(?) p.(Arg805*) - ClinVar g.112838007C>T R805* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000020 rs587779783 1/9 - Nuur Athirah Binti Mohd Daud
+/. - c.2413C>T - r.(?) p.(Arg805*) - Pathogenic g.112838007C>T - Abdul SN et al.(2017) APC_000020 rs587779783 - - Nur Aisyah Athirah
+/. 16 c.2802_2805del Y935fs r.(?) p.(Tyr935Ilefs*19) - ClinVar g.112838396_112838399del Y935fs Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000021 rs1131691143 1/9 - Nuur Athirah Binti Mohd Daud
+/. - c.2804dupA - r.(?) p.(Tyr935*) - Pathogenic/Likely pathogenic g.112838398dupA - Abdul SN et al.(2017) APC_000027 rs863225332 - - Nur Aisyah Athirah
+?/. 16 c.3139G>T E1057* r.(?) p.(Glu1047*) - ClinVar g.112838733G>T E1057* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000024 rs568149455 1/4 - Nuur Athirah Binti Mohd Daud
?/. - c.3889_3890del c.3889-3890delGA r.(?) p.(Asp1297Phefs*3) - - g.112839483_112839484del c.3889-3890delGA Lu Ping Tan et al. (2007) APC_000013 - 1/16 - Nuur Athirah Binti Mohd Daud
+/. 18 c.3927_3931del 3927-3931delAAAGA , codon 1309 r.(?) p.(Glu1309Aspfs*4) - ClinVar g.112839521_112839525del 3927-3931delAAAGA , codon 1309 Lu Ping Tan et al. (2007)dbSNP APC_000009 rs121913224 1/16 - Nuur Athirah Binti Mohd Daud
?/. 18 c.3928_3929del c.3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - - g.112839522_112839523del c.3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud
?/. - c.3928_3929del 3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - - g.112839522_112839523del 3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud
+/. - c.4031C>G S1326X, S1344X r.(?) p.(Ser1344*) - - g.112839625C>G S1326X, S1344X dbSNP, ClinVar APC_000031 rs1114167578 1/10 - Nuur Athirah Binti Mohd Daud
+/. - c.4033G>T E1304X, E1322X r.(?) p.(Glu1345*) - Pathogenic g.112839627G>T E1304X, E1322X dbSNP, ClinVar APC_000029 rs1211642532 1/10 - Nuur Athirah Binti Mohd Daud
+/. 16 c.4132C>T Q1378* r.(?) p.(Gln1378*) - ClinVar g.112839726C>T Q1378* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000022 rs121913329 2/9 - Nuur Athirah Binti Mohd Daud
+?/. 16 c.4135G>T E1361* r.(?) p.(Glu1379*) - ClinVar g.112839729G>T E1361* Shafina-Nadiawati Abdul et al. (2017), dbSNP, ClinVar APC_000025 rs121913326 2/4 - Nuur Athirah Binti Mohd Daud
?/. - c.4180_4183delGATA 4180-4183delGATA , codon 1394 r.(?) p.(Asp1394Valfs*20) - - g.112839774_112839777delGATA 4180-4183delGATA , codon 1394 Lu Ping Tan et al. (2007) APC_000018 - 1/16 - Nuur Athirah Binti Mohd Daud
?/. - c.4182_4185delTAGT - r.(?) p.(Ser1395Leufs*19) - - g.112839776_112839779delTAGT - Lu Ping Tan et al. (2007) APC_000017 - 2/16 - Nuur Athirah Binti Mohd Daud
?/. - c.4197_4207del 4197-4207delTTCGATTGCCA r.(?) p.(Ser1400Leufs*5) - - g.112839791_112839801del 4197-4207delTTCGATTGCCA Lu Ping Tan et al. (2007) APC_000011 - 1/16 - Nuur Athirah Binti Mohd Daud
?/. 18 c.4199C>A S1400X r.(?) p.(Ser1400*) - - g.112839793C>A S1400X Lu Ping Tan et al. (2007) APC_000010 - 1/16 - Nuur Athirah Binti Mohd Daud
+/. - c.4202_4203delTT - r.(?) p.(Ile1401Serfs*7) - - g.112839796_112839797delTT - Abdul SN et al.(2017) APC_000028 - - - Nur Aisyah Athirah
?/. - c.4220_4221insAG - r.(?) p.(Ser1407Argfs*9) - - g.112839814_112839815insAG - Lu Ping Tan et al. (2007) APC_000016 - 1/16 - Nuur Athirah Binti Mohd Daud
+?/. - c.4285C>T Q1429X r.(?) p.(Gln1429*) - ClinVar g.112839879C>T Q1429X Lu Ping Tan et al. (2007)dbSNP APC_000007 rs74535574 1/16 - Nuur Athirah Binti Mohd Daud
?/. 18 c.4348C>T 1450X r.(?) p.(Arg1450*) - ClinVar g.112839942C>T 1450X Lu Ping Tan et al. (2007), dbSNP, ClinVar APC_000012 rs121913332 1/16 - Nuur Athirah Binti Mohd Daud
+/. - c.4348C>T 5214_5215GC, 5268_5269GC r.(?) p.(Arg1450*) - Pathogenic g.112839942C>T 5214_5215GC, 5268_5269GC dbSNP, ClinVar APC_000012 rs121913332 1/10 - Nuur Athirah Binti Mohd Daud
+/. - c.4348C>T R1432X, R1450X r.(?) p.(Arg1450*) - Pathogenic g.112839942C>T R1432X, R1450X dbSNP, ClinVar APC_000012 rs121913332 1/10 - Nuur Athirah Binti Mohd Daud
?/. 18 c.4384_4385del 4384-4385delGA r.(?) p.(Lys1462Glufs*6) - ClinVar g.112839978_112839979del 4384-4385delGA Lu Ping Tan et al. (2007)dbSNP APC_000014 rs1554085846 1/16 - Nuur Athirah Binti Mohd Daud
+/. 16 c.4453del A1485fs r.(?) p.(Ala1485Leufs*22) - - g.112840047del A1485fs Shafina-Nadiawati Abdul et al. (2017) APC_000023 rs61750095 1/9 - Nuur Athirah Binti Mohd Daud
+/. - c.4455delT - r.(?) p.(Asp1486Ilefs*21) - - g.112840049delT - Abdul SN et al.(2017) APC_000026 rs113994134 - - Nur Aisyah Athirah
-/. - c.4479G>A 112175770G > A r.(=) p.(=) - ClinVar g.112840073G>A 112175770G > A Nurul-Syakima Ab Mutalib et al. (2014)dbSNP APC_000005 rs41115 3/9 - Nuur Athirah Binti Mohd Daud
-/. - c.4479G>A 112175770G > A r.(=) p.(=) - ClinVar g.112840073G>A 112175770G > A Nurul-Syakima Ab Mutalib et al. (2014)dbSNP APC_000005 rs41115 5/9 - Nuur Athirah Binti Mohd Daud
?/. 11i_15i c.5959A>G - r.(?) p.(Ile1987Val) - ClinVar g.112841553A>G - N.A. Abdul Murad et al. (2012), dbSNP APC_000004 rs1269798265 76 - MyHVP
?/. 11i_15i c.5995C>G - r.(?) p.(Pro1999Ala) - ClinVar g.112841589C>G - N.A. Abdul Murad et al. (2012), dbSNP, ClinVar APC_000002 rs1554087136 76 - MyHVP
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