Unique variants in gene AFF2

Information The variants shown are described using the NM_002025.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.48-255_48-254insA - r.(=) p.(=) g.147733265_147733266insA - - - AFF2_000062 - - - - Germline - - - - - Yu Sun
?/., -?/. 2 - c.178T>C VUS, likely benign r.(?) p.(Tyr60His) g.147733650T>C - AFF2(NM_001169124.1):c.178T>C (p.(Tyr60His)) - AFF2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.179A>G VUS r.(?) p.(Tyr60Cys) g.147733651A>G - AFF2(NM_002025.3):c.179A>G (p.Y60C) - AFF2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.257C>T VUS r.(?) p.(Thr86Ile) g.147743505C>T - AFF2(NM_001169122.1):c.245C>T (p.(Thr82Ile), p.(Thr86Ile)) - AFF2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.493A>G likely benign r.(?) p.(Asn165Asp) g.147743741A>G - AFF2(NM_001169122.1):c.481A>G (p.(Asn161Asp), p.(Asn165Asp)) - AFF2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/., ?/. 2 - c.496C>T likely benign, VUS r.(?) p.(Pro166Ser) g.147743744C>T - AFF2(NM_002025.3):c.496C>T (p.P166S) - AFF2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.566C>G likely benign r.(?) p.(Ser189Cys) g.147743814C>G - AFF2(NM_002025.3):c.566C>G (p.S189C) - AFF2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1034C>A likely benign r.(?) p.(Thr345Lys) g.147744282C>A - AFF2(NM_001169122.1):c.1022C>A (p.(Thr341Lys), p.(Thr345Lys)) - AFF2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1041+56448G>A likely benign r.(=) p.(=) g.147800737G>A - AFF2(NM_001170628.1):c.33G>A (p.P11=) - AFF2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1041+56459A>G benign r.(=) p.(=) g.147800748A>G - AFF2(NM_001170628.1):c.44A>G (p.K15R) - AFF2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.1086+114T>C - r.(=) p.(=) g.147891558T>C - - - AFF2_000055 - - - - Germline - - - - - Yu Sun
./. 2 - c.1087-108_1087-104del - r.(=) p.(=) g.147919063_147919067del - - - AFF2_000058 - - - - Germline - - - - - Yu Sun
./. 2 - c.1087-97_1087-93del - r.(=) p.(=) g.147919074_147919078del - - - AFF2_000028 - - - - Germline - - - - - Yu Sun
-/., -?/. 2 - c.1121C>A benign, likely benign r.(?) p.(Ser374Tyr) g.147919205C>A - AFF2(NM_001169123.1):c.1109C>A (p.(Ser370Tyr), p.(Ser374Tyr)) - AFF2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.1162A>G likely benign r.(?) p.(Ile388Val) g.147919246A>G - AFF2(NM_001169123.1):c.1150A>G (p.(Ile384Val), p.(Ile388Val)) - AFF2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1165C>A likely benign r.(?) p.(Pro389Thr) g.147919249C>A - AFF2(NM_001169123.1):c.1153C>A (p.(Pro385Thr), p.(Pro389Thr)) - AFF2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.1173+278A>G - r.(=) p.(=) g.147919535A>G - - - AFF2_000030 - - - - Germline - - - - - Yu Sun
./. 1 - c.1262+396G>C - r.(=) p.(=) g.147925353G>C - - - AFF2_000033 - - - - Germline - - - - - Yu Sun
./. 1 - c.1263-372C>A - r.(=) p.(=) g.147967047C>A - - - AFF2_000034 - - - - Germline - - - - - Yu Sun
./. 2 - c.1359+202G>A - r.(=) p.(=) g.147967717G>A - - - AFF2_000035 - - - - Germline - - - - - Yu Sun
+?/., ?/. 2 - c.1444G>A likely pathogenic, VUS r.(?) p.(Gly482Arg) g.148035156G>A - AFF2(NM_001169122.1):c.1444G>A (p.Gly482Arg) - AFF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Leiden
-?/. 1 - c.1467A>T likely benign r.(?) p.(Glu489Asp) g.148035179A>T - 1 more item - AFF2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1488G>A - r.(=) p.(=) g.148035200G>A - S496S - AFF2_000090 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - Lucy Raymond
./. 2 - c.1558-190A>G - r.(=) p.(=) g.148036943A>G - - - AFF2_000038 - - - - Germline - - - - - Yu Sun
./. 2 - c.1558-78G>C - r.(=) p.(=) g.148037055G>C - - - AFF2_000041 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1558C>T likely benign r.(?) p.(Pro520Ser) g.148037133C>T - AFF2(NM_002025.3):c.1558C>T (p.Pro520Ser) - AFF2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1786G>A VUS r.(?) p.(Ala596Thr) g.148037361G>A - AFF2(NM_002025.3):c.1786G>A (p.A596T) - AFF2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1788C>A benign r.(?) p.(=) g.148037363C>A - AFF2(NM_002025.3):c.1788C>A (p.A596=) - AFF2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1795C>T likely benign r.(?) p.(Arg599Trp) g.148037370C>T - 1 more item - AFF2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1834C>G - r.(?) p.(His612Asp) g.148037409C>G - - - AFF2_000091 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 2 - c.2065C>T likely benign r.(?) p.(Pro689Ser) g.148037640C>T - 1 more item - AFF2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.2108T>C VUS r.(?) p.(Ile703Thr) g.148037683T>C - AFF2(NM_002025.3):c.2108T>C (p.Ile703Thr) - AFF2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2109T>G likely benign r.(?) p.(Ile703Met) g.148037684T>G - 1 more item - AFF2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2204C>T VUS r.(?) p.(Pro735Leu) g.148037779C>T - AFF2(NM_002025.3):c.2204C>T (p.(Pro735Leu)) - AFF2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2247C>G likely benign r.(?) p.(Ile749Met) g.148037822C>G - AFF2(NM_002025.3):c.2247C>G (p.I749M) - AFF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2351T>G VUS r.(?) p.(Met784Arg) g.148037926T>G - AFF2(NM_002025.3):c.2351T>G (p.Met784Arg) - AFF2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2467C>G likely benign r.(?) p.(Pro823Ala) g.148038042C>G - AFF2(NM_002025.3):c.2467C>G (p.P823A) - AFF2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.2509C>T - r.(2509c>u) p.(Arg837Cys) g.148038084C>T g.148956554C>T - - AFF2_000087 - PubMed: Du 2018 - - Germline - - - - - Fei Li
-?/. 1 - c.2558G>A likely benign r.(?) p.(Arg853His) g.148038133G>A - 1 more item - AFF2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.2568+178A>G - r.(=) p.(=) g.148038321A>G - - - AFF2_000044 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2572A>G likely benign r.(?) p.(Ile858Val) g.148039870A>G - AFF2(NM_002025.3):c.2572A>G (p.I858V) - AFF2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/., ?/. 4 - c.2656C>G benign, likely benign r.(?) p.(Pro886Ala) g.148039954C>G - AFF2(NM_002025.3):c.2656C>G (p.P886A) - AFF2_000003 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_Groningen, Lucy Raymond
-?/. 1 - c.2776C>T likely benign r.(?) p.(Arg926Cys) g.148044330C>T - AFF2(NM_002025.3):c.2776C>T (p.R926C) - AFF2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/., ?/. 3 - c.2780G>A benign, likely benign, VUS r.(?) p.(Arg927His) g.148044334G>A - AFF2(NM_002025.3):c.2780G>A (p.Arg927His) - AFF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_Leiden
?/. 1 - c.2906C>T VUS r.(?) p.(Ser969Leu) g.148044460C>T - AFF2(NM_002025.3):c.2906C>T (p.(Ser969Leu)) - AFF2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2908G>C likely benign r.(?) p.(Val970Leu) g.148044462G>C - AFF2(NM_002025.3):c.2908G>C (p.V970L) - AFF2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.2914-113_2914-112del - r.(=) p.(=) g.148048207_148048208del - - - AFF2_000061 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.2914-7T>A likely benign r.(=) p.(=) g.148048313T>A - AFF2(NM_001169122.1):c.2809-7T>A (p.(=)) - AFF2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2917G>A VUS r.(?) p.(Gly973Arg) g.148048323G>A - 1 more item - AFF2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.3262G>A likely pathogenic r.(?) p.(Ala1088Thr) g.148049217G>A - AFF2():c.3262G>A (p.(Ala1088Thr)) - AFF2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.3267+42T>G - r.(=) p.(=) g.148049264T>G - - - AFF2_000089 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.3270C>T likely benign r.(?) p.(=) g.148055003C>T - AFF2(NM_001169122.1):c.3165C>T (p.(=)) - AFF2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., ./. 3 - c.3404+7A>G benign r.(=) p.(=) g.148055144A>G - AFF2(NM_002025.3):c.3404+7A>G - AFF2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Yu Sun
./. 2 - c.3404+241G>A - r.(=) p.(=) g.148055378G>A - - - AFF2_000004 - - - - Germline - - - - - Yu Sun
./. 2 - c.3404+293G>A - r.(=) p.(=) g.148055430G>A - - - AFF2_000005 - - - - Germline - - - - - Yu Sun
./. 2 - c.3623+57G>A - r.(=) p.(=) g.148062377G>A - - - AFF2_000006 - - - - Germline - - - - - Yu Sun
./. 2 - c.3623+178C>G - r.(=) p.(=) g.148062498C>G - - - AFF2_000007 - - - - Germline - - - - - Yu Sun
-/. 1 - c.3693C>T benign r.(?) p.(=) g.148068966C>T - AFF2(NM_002025.3):c.3693C>T (p.G1231=) - AFF2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 2 - c.*6777A>C - r.(=) p.(=) g.148079639A>C - - - AFF2_000008 - - - - Germline - - - - - Yu Sun
./. 2 - c.*6878A>C - r.(=) p.(=) g.148079740A>C - - - AFF2_000009 - - - - Germline - - - - - Yu Sun
./. 2 - c.*7015T>C - r.(=) p.(=) g.148079877T>C - - - AFF2_000010 - - - - Germline - - - - - Yu Sun
./. 1 - c.*7233A>G - r.(=) p.(=) g.148080095A>G - - - AFF2_000079 - PubMed: Almomani 2011 dbSNP - - Germline - - - - - Gerard C.P. Schaafsma
./. 1 - c.*8247_*8248del - r.(=) p.(=) g.148081109_148081110del - - - AFF2_000060 - - - - Germline - - - - - Yu Sun
./. 1 - c.*8269_*8270del - r.(=) p.(=) g.148081131_148081132del - - - AFF2_000012 - - - - Germline - - - - - Yu Sun
./. 1 - c.*8278A>G - r.(=) p.(=) g.148081140A>G - - - AFF2_000022 - - - - Germline - - - - - Yu Sun
./. 2 - c.*8589A>G - r.(=) p.(=) g.148081451A>G - - - AFF2_000013 - - - - Germline - - - - - Yu Sun
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