Unique variants in gene FANCC

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

48 entries on 1 page. Showing entries 1 - 48.
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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     
./. 1 - c.29G>A r.(?) p.(Cys10Tyr) g.98011545C>T - FANCC_000036 - - - - Despoina Kalfakakou
./. 1 - c.46A>T r.(?) p.(Met16Leu) g.98011528T>A - FANCC_000041 - - - - Despoina Kalfakakou
./. 35 - c.77C>T r.(?) p.(Ser26Phe) g.98011497G>A - FANCC_000007 rs1800361 - - - Despoina Kalfakakou
./. 1 - c.140A>G r.(?) p.(Lys47Arg) g.98011434T>C - FANCC_000028 - - - - Despoina Kalfakakou
./. 1 - c.166-2A>G r.spl? p.? g.98009800T>C - FANCC_000045 - - - - Despoina Kalfakakou
./. 1 - c.176C>T r.(?) p.(Thr59Ile) g.98009788G>A - FANCC_000033 - - - - Despoina Kalfakakou
./. 6 - c.178G>A r.(?) p.(Val60Ile) g.98009786C>T - FANCC_000017 - - - - Despoina Kalfakakou
./. 1 - c.250+24T>C r.(=) p.(=) g.98009690A>G - FANCC_000006 - - - - Despoina Kalfakakou
./. 1 - c.277T>C r.(?) p.(Cys93Arg) g.98002999A>G - FANCC_000005 - - - - Despoina Kalfakakou
./. 10 - c.345+41T>C r.(=) p.(=) g.98002890A>G - FANCC_000004 - - - - Despoina Kalfakakou
./. 5 - c.346-47T>C r.(=) p.(=) g.97934476A>G - FANCC_000013 - - - - Despoina Kalfakakou
./. 1 - c.346-44A>G r.(=) p.(=) g.97934473T>C - FANCC_000043 - - - - Despoina Kalfakakou
./. 2 - c.346-1G>A r.spl? p.? g.97934430C>T - FANCC_000003 - - - - Despoina Kalfakakou
./. 1 - c.457-34_457-33del r.(=) p.(=) g.97933458_97933459del - FANCC_000002 - - - - Despoina Kalfakakou
./. 1 - c.509A>G r.(?) p.(Asn170Ser) g.97933373T>C - FANCC_000026 - - - - Despoina Kalfakakou
./. 1 - c.522-45G>A r.(=) p.(=) g.97912414C>T - FANCC_000021 - - - - Despoina Kalfakakou
./. 1 - c.526G>C r.(?) p.(Ala176Pro) g.97912365C>G - FANCC_000042 - - - - Despoina Kalfakakou
./. 1 - c.543G>A r.(=) p.(=) g.97912348C>T - FANCC_000024 - - - - Despoina Kalfakakou
./. 5 - c.554G>A r.(?) p.(Arg185Gln) g.97912337C>T - FANCC_000012 - - - - Despoina Kalfakakou
./. 27 - c.584A>T r.(?) p.(Asp195Val) g.97912307T>A - FANCC_000001 rs1800365 - - - Despoina Kalfakakou
./. 1 - c.621T>C r.(=) p.(=) g.97912270A>G - FANCC_000039 - - - - Despoina Kalfakakou
./. 3 - c.654G>A r.(=) p.(=) g.97912237C>T - FANCC_000011 - - - - Despoina Kalfakakou
./. 1 - c.677C>T r.(?) p.(Ala226Val) g.97912214G>A - FANCC_000047 - - - - Despoina Kalfakakou
./. 1 - c.687-53_687-51del r.(=) p.(=) g.97897835_97897837del - FANCC_000020 - - - - Despoina Kalfakakou
./. 1 - c.738C>T r.(=) p.(=) g.97897733G>A - FANCC_000016 - - - - Despoina Kalfakakou
./. 2 - c.767A>G r.(?) p.(His256Arg) g.97897704T>C - FANCC_000029 - - - - Despoina Kalfakakou
./. 1 - c.816C>T r.(=) p.(=) g.97897655G>A - FANCC_000046 rs55719336 - - - Despoina Kalfakakou
./. 4 - c.823T>C r.(?) p.(Phe275Leu) g.97897648A>G - FANCC_000023 - - - - Despoina Kalfakakou
./. 2 - c.843+12G>A r.(=) p.(=) g.97897616C>T - FANCC_000019 - - - - Despoina Kalfakakou
./. 1 - c.844-10C>T r.(=) p.(=) g.97888873G>A - FANCC_000030 - - - - Despoina Kalfakakou
./. 1 - c.896+7G>A r.(=) p.(=) g.97888804C>T - FANCC_000037 - - - - Despoina Kalfakakou
./. 1 - c.896+12A>G r.(=) p.(=) g.97888799T>C - FANCC_000032 - - - - Despoina Kalfakakou
./. 1 - c.897-30C>T r.(=) p.(=) g.97887497G>A - FANCC_000008 - - - - Despoina Kalfakakou
./. 2 - c.934A>G r.(?) p.(Ile312Val) g.97887430T>C - FANCC_000009 rs1800366 - - - Despoina Kalfakakou
./. 2 - c.996+23del r.(=) p.(=) g.97887345del - FANCC_000027 - - - - Despoina Kalfakakou
./. 1 - c.996+51T>G r.(=) p.(=) g.97887317A>C - FANCC_000018 - - - - Despoina Kalfakakou
./. 1 - c.1063G>C r.(?) p.(Asp355His) g.97879606C>G - FANCC_000044 - - - - Despoina Kalfakakou
./. 2 - c.1073-18A>C r.(=) p.(=) g.97877010T>G - FANCC_000038 - - - - Despoina Kalfakakou
./. 1 - c.1329+5del r.spl? p.? g.97873740del - FANCC_000025 - - - - Despoina Kalfakakou
./. 1 - c.1329+22A>C r.(=) p.(=) g.97873723T>G - FANCC_000010 - - - - Despoina Kalfakakou
./. 1 - c.1330-4C>G r.spl? p.? g.97869555G>C - FANCC_000035 - - - - Despoina Kalfakakou
./. 3 - c.1394A>G r.(?) p.(Gln465Arg) g.97869487T>C - FANCC_000014 rs1800368 - - - Despoina Kalfakakou
./. 1 - c.1406C>T r.(?) p.(Thr469Met) g.97869475G>A - FANCC_000022 - - - - Despoina Kalfakakou
./. 1 - c.1533+5G>T r.spl? p.? g.97869343C>A - FANCC_000048 - - - - Despoina Kalfakakou
./. 1 - c.1534-8G>T r.(=) p.(=) g.97864140C>A - FANCC_000034 - - - - Despoina Kalfakakou
./. 1 - c.1654A>C r.(?) p.(Lys552Gln) g.97864012T>G - FANCC_000031 - - - - Despoina Kalfakakou
./. 1 - c.*5C>T r.(=) p.(=) g.97863984G>A - FANCC_000040 - - - - Despoina Kalfakakou
./. 1 - c.*46G>A r.(=) p.(=) g.97863943C>T - FANCC_000015 - - - - Despoina Kalfakakou
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