Unique variants in gene FANCE

Information The variants shown are described using the NM_021922.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 19 - c.-19G>C r.(=) p.(=) g.35420304G>C - FANCE_000006 rs13215706 - - - Despoina Kalfakakou
./. 1 - c.31G>A r.(?) p.(Ala11Thr) g.35420353G>A - FANCE_000028 - - - - Despoina Kalfakakou
./. 1 - c.87_95del r.(?) p.(Leu33_Ala35del) g.35420409_35420417del - FANCE_000047 - - - - Despoina Kalfakakou
./. 2 - c.95C>A r.(?) p.(Ala32Glu) g.35420417C>A - FANCE_000015 - - - - Despoina Kalfakakou
./. 1 - c.103G>A r.(?) p.(Ala35Thr) g.35420425G>A - FANCE_000019 - - - - Despoina Kalfakakou
./. 3 - c.199C>T r.(=) p.(=) g.35420521C>T - FANCE_000037 - - - - Despoina Kalfakakou
./. 1 - c.222G>T r.(=) p.(=) g.35420544G>T - FANCE_000036 - - - - Despoina Kalfakakou
./. 2 - c.229C>A r.(?) p.(Pro77Thr) g.35420551C>A - FANCE_000016 - - - - Despoina Kalfakakou
./. 9 - c.248+7C>A r.(=) p.(=) g.35420577C>A - FANCE_000007 - - - - Despoina Kalfakakou
./. 1 - c.248+40_248+41insG r.(=) p.(=) g.35420610_35420611insG - FANCE_000020 - - - - Despoina Kalfakakou
./. 2 - c.265C>T r.(?) p.(Arg89*) g.35423540C>T - FANCE_000040 - - - - Despoina Kalfakakou
./. 1 - c.266G>T r.(?) p.(Arg89Leu) g.35423541G>T - FANCE_000029 rs45600543 - - - Despoina Kalfakakou
./. 1 - c.298T>A r.(?) p.(Ser100Thr) g.35423573T>A - FANCE_000038 - - - - Despoina Kalfakakou
./. 1 - c.466C>T r.(=) p.(=) g.35423741C>T - FANCE_000017 - - - - Despoina Kalfakakou
./. 1 - c.657del r.(?) p.(Arg219Serfs*77) g.35423932del - FANCE_000045 - - - - Despoina Kalfakakou
./. 9 - c.733_735del r.(?) p.(Gly246del) g.35424008_35424010del - FANCE_000008 - - - - Despoina Kalfakakou
./. 2 - c.862C>T r.(?) p.(Leu288Phe) g.35425339C>T - FANCE_000030 - - - - Despoina Kalfakakou
./. 1 - c.901-44C>T r.(=) p.(=) g.35425649C>T - FANCE_000051 - - - - Despoina Kalfakakou
./. 3 - c.901-36G>T r.(=) p.(=) g.35425657G>T - FANCE_000018 - - - - Despoina Kalfakakou
./. 1 - c.922_923insC r.(?) p.(Val311Serfs*2) g.35425714_35425715insC - FANCE_000050 - - - - Despoina Kalfakakou
./. 1 - c.928C>G r.(?) p.(Pro310Ala) g.35425720C>G - FANCE_000035 - - - - Despoina Kalfakakou
./. 6 - c.929C>A r.(?) p.(Pro310Gln) g.35425721C>A - FANCE_000009 - - - - Despoina Kalfakakou
./. 2 - c.929C>T r.(?) p.(Pro310Leu) g.35425721C>T - FANCE_000002 - - - - Despoina Kalfakakou
./. 1 - c.968A>G r.(?) p.(Gln323Arg) g.35425760A>G - FANCE_000048 - - - - Despoina Kalfakakou
./. 3 - c.969+51C>A r.(=) p.(=) g.35425812C>A - FANCE_000021 - - - - Despoina Kalfakakou
./. 1 - c.970-33G>A r.(=) p.(=) g.35426041G>A - FANCE_000024 - - - - Despoina Kalfakakou
./. 2 - c.983G>A r.(?) p.(Cys328Tyr) g.35426087G>A - FANCE_000039 - - - - Despoina Kalfakakou
./. 1 - c.995A>G r.(?) p.(Gln332Arg) g.35426099A>G - FANCE_000043 - - - - Despoina Kalfakakou
./. 1 - c.1018G>C r.(?) p.(Gly340Arg) g.35426122G>C - FANCE_000025 rs45524646 - - - Despoina Kalfakakou
./. 1 - c.1052T>C r.(?) p.(Leu351Pro) g.35426156T>C - FANCE_000049 - - - - Despoina Kalfakakou
./. 1 - c.1112G>A r.(?) p.(Arg371Gln) g.35426216G>A - FANCE_000026 - - - - Despoina Kalfakakou
./. 3 - c.1113+20C>T r.(=) p.(=) g.35426237C>T - FANCE_000003 - - - - Despoina Kalfakakou
./. 8 - c.1113+23_1113+24insC r.(=) p.(=) g.35426240_35426241insC - FANCE_000010 - - - - Despoina Kalfakakou
./. 1 - c.1113+30C>T r.(=) p.(=) g.35426247C>T - FANCE_000031 - - - - Despoina Kalfakakou
./. 1 - c.1114-4G>A r.spl? p.? g.35427104G>A - FANCE_000011 - - - - Despoina Kalfakakou
./. 1 - c.1198A>G r.(?) p.(Ser400Gly) g.35427192A>G - FANCE_000027 - - - - Despoina Kalfakakou
./. 1 - c.1201G>A r.(?) p.(Ala401Thr) g.35427195G>A - FANCE_000046 - - - - Despoina Kalfakakou
./. 1 - c.1238-35C>A r.(=) p.(=) g.35427424C>A - FANCE_000032 rs45571538 - - - Despoina Kalfakakou
./. 1 - c.1332G>A r.(=) p.(=) g.35428344G>A - FANCE_000022 - - - - Despoina Kalfakakou
./. 6 - c.1333C>T r.(?) p.(Pro445Ser) g.35428345C>T - FANCE_000004 - - - - Despoina Kalfakakou
./. 1 - c.1346A>G r.(?) p.(Glu449Gly) g.35428358A>G - FANCE_000044 - - - - Despoina Kalfakakou
./. 1 - c.1376A>G r.(?) p.(Glu459Gly) g.35428388A>G - FANCE_000042 - - - - Despoina Kalfakakou
./. 1 - c.1383+1G>T r.spl? p.? g.35428396G>T - FANCE_000012 - - - - Despoina Kalfakakou
./. 1 - c.1384-40C>G r.(=) p.(=) g.35430526C>G - FANCE_000013 - - - - Despoina Kalfakakou
./. 1 - c.1384-14C>T r.(=) p.(=) g.35430552C>T - FANCE_000033 - - - - Despoina Kalfakakou
./. 1 - c.1509+14G>C r.(=) p.(=) g.35430705G>C - FANCE_000041 - - - - Despoina Kalfakakou
./. 14 - c.1510-11C>T r.(=) p.(=) g.35434010C>T - FANCE_000005 - - - - Despoina Kalfakakou
./. 2 - c.1525A>C r.(=) p.(=) g.35434036A>C - FANCE_000023 - - - - Despoina Kalfakakou
./. 25 - c.1572G>A r.(=) p.(=) g.35434083G>A - FANCE_000001 - - - - Despoina Kalfakakou
./. 1 - c.1573A>G r.(?) p.(Lys525Glu) g.35434084A>G - FANCE_000014 - - - - Despoina Kalfakakou
./. 2 - c.1594A>C r.(?) p.(Lys532Gln) g.35434105A>C - FANCE_000034 - - - - Despoina Kalfakakou
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