Unique variants in gene FANCD2

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

154 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
./. 3 - c.28T>C r.(?) p.(Ser10Pro) g.10070369T>C - FANCD2_000051 - - - - - - - Despoina Kalfakakou
./. 1 - c.64+51A>G r.(=) p.(=) g.10070456A>G - FANCD2_000153 - - - - - - - Despoina Kalfakakou
./. 1 - c.65-18A>C r.(=) p.(=) g.10074498A>C - FANCD2_000026 - - - - - - - Despoina Kalfakakou
./. 10 - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. 1 - c.86C>T r.(?) p.(Ser29Phe) g.10074537C>T - FANCD2_000103 - - - - - - - Despoina Kalfakakou
./. 1 - c.182C>T r.(?) p.(Thr61Met) g.10074633C>T - FANCD2_000108 rs35110529 - - - - - - Despoina Kalfakakou
./. 2 - c.195G>C r.(?) p.(Gln65His) g.10074646G>C - FANCD2_000104 rs36084488 - - - - - - Despoina Kalfakakou
./. 1 - c.206-38T>C r.(=) p.(=) g.10076115T>C - FANCD2_000141 - - - - - - - Despoina Kalfakakou
./. 1 - c.206-19T>C r.(=) p.(=) g.10076134T>C - FANCD2_000123 - - - - - - - Despoina Kalfakakou
./. 1 - c.273+40T>G r.(=) p.(=) g.10076260T>G - FANCD2_000021 - - - - - - - Despoina Kalfakakou
./. 1 - c.350G>C r.(?) p.(Cys117Ser) g.10076455G>C - FANCD2_000109 - - - - - - - Despoina Kalfakakou
./. 14 - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. 2 - c.423G>T r.(=) p.(=) g.10076902G>T - FANCD2_000138 - - - - - - - Despoina Kalfakakou
./. 10 - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. 2 - c.570+22C>T r.(=) p.(=) g.10081063C>T - FANCD2_000068 - - - - - - - Despoina Kalfakakou
./. 2 - c.571-19A>T r.(=) p.(=) g.10081386A>T - FANCD2_000097 - - - - - - - Despoina Kalfakakou
./. 1 - c.571-4G>A r.spl? p.? g.10081401G>A - FANCD2_000132 - - - - - - - Despoina Kalfakakou
./. 1 - c.673G>A r.(?) p.(Ala225Thr) g.10081507G>A - FANCD2_000086 - - - - - - - Despoina Kalfakakou
./. 10 - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. 1 - c.784-38A>G r.(=) p.(=) g.10084205A>G - FANCD2_000102 - - - - - - - Despoina Kalfakakou
./. 1 - c.784-7T>A r.(=) p.(=) g.10084236T>A - FANCD2_000155 - - - - - - - Despoina Kalfakakou
./. 2 - c.803A>G r.(?) p.(Asp268Gly) g.10084262A>G - FANCD2_000075 - - - - - - - Despoina Kalfakakou
./. 1 - c.888+13A>G r.(=) p.(=) g.10084360A>G - FANCD2_000139 - - - - - - - Despoina Kalfakakou
./. 4 - c.888+49A>G r.(=) p.(=) g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou
./. 2 - c.894T>C r.(=) p.(=) g.10084739T>C - FANCD2_000076 - - - - - - - Despoina Kalfakakou
./. 2 - c.903T>A r.(=) p.(=) g.10084748T>A - FANCD2_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.906G>A r.(=) p.(=) g.10084751G>A - FANCD2_000089 - - - - - - - Despoina Kalfakakou
./. 1 - c.989+23del r.(=) p.(=) g.10084857del - FANCD2_000100 - - - - - - - Despoina Kalfakakou
./. 6 - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. 5 - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. 1 - c.1099-37G>A r.(=) p.(=) g.10085476G>A - FANCD2_000112 - - - - - - - Despoina Kalfakakou
./. 1 - c.1099-34A>G r.(=) p.(=) g.10085479A>G - FANCD2_000045 - - - - - - - Despoina Kalfakakou
./. 1 - c.1099-15C>T r.(=) p.(=) g.10085498C>T - FANCD2_000077 - - - - - - - Despoina Kalfakakou
./. 5 - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. 5 - c.1118C>T r.(?) p.(Ser373Leu) g.10085532C>T - FANCD2_000111 - - - - - - - Despoina Kalfakakou
./. 3 - c.1122A>G r.(=) p.(=) g.10085536A>G - FANCD2_000166 rs34046352 - - - - - - Despoina Kalfakakou
./. 2 - c.1132A>G r.(?) p.(Lys378Glu) g.10085546A>G - FANCD2_000131 - - - - - - - Despoina Kalfakakou
./. 1 - c.1134+39T>G r.(=) p.(=) g.10085587T>G - FANCD2_000140 - - - - - - - Despoina Kalfakakou
./. 5 - c.1156T>G r.(?) p.(Phe386Val) g.10088285T>G - FANCD2_000098 - - - - - - - Despoina Kalfakakou
./. 1 - c.1200C>A r.(?) p.(Asp400Glu) g.10088329C>A - FANCD2_000078 - - - - - - - Despoina Kalfakakou
./. 5 - c.1265C>G r.(?) p.(Ser422Cys) g.10088394C>G - FANCD2_000016 - - - - - - - Despoina Kalfakakou
./. 2 - c.1278_1278+3del r.spl? p.? g.10088407_10088410del - FANCD2_000165 - - - - - - - Despoina Kalfakakou
./. 1 - c.1278+36C>G r.(=) p.(=) g.10088443C>G - FANCD2_000119 - - - - - - - Despoina Kalfakakou
./. 5 - c.1348A>G r.(?) p.(Ile450Val) g.10089670A>G - FANCD2_000004 - - - - - - - Despoina Kalfakakou
./. 1 - c.1414-4A>G r.spl? p.? g.10091054A>G - FANCD2_000115 - - - - - - - Despoina Kalfakakou
./. 3 - c.1440T>C r.(=) p.(=) g.10091084T>C - FANCD2_000079 rs445387 - - - - - - Despoina Kalfakakou
./. 1 - c.1465G>A r.(?) p.(Val489Ile) g.10091109G>A - FANCD2_000126 - - - - - - - Despoina Kalfakakou
./. 63 - c.1509C>T r.(=) p.(=) g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou
./. 2 - c.1519A>T r.(?) p.(Met507Leu) g.10091163A>T - FANCD2_000018 - - - - - - - Despoina Kalfakakou
./. 1 - c.1545+39T>A r.(=) p.(=) g.10091228T>A - FANCD2_000092 - - - - - - - Despoina Kalfakakou
./. 1 - c.1546G>T r.(?) p.(Gly516Cys) g.10094071G>T - FANCD2_000080 - - - - - - - Despoina Kalfakakou
./. 12 - c.1634A>G r.(?) p.(Asn545Ser) g.10094159A>G - FANCD2_000019 - - - - - - - Despoina Kalfakakou
./. 44 - c.1656+14T>A r.(=) p.(=) g.10094195T>A - FANCD2_000011 - - - - - - - Despoina Kalfakakou
./. 1 - c.1656+14T>C r.(=) p.(=) g.10094195T>C - FANCD2_000136 - - - - - - - Despoina Kalfakakou
./. 2 - c.1677A>G r.(?) p.(Ile559Met) g.10101998A>G - FANCD2_000046 - - - - - - - Despoina Kalfakakou
./. 1 - c.1696A>G r.(?) p.(Thr566Ala) g.10102017A>G - FANCD2_000012 - - - - - - - Despoina Kalfakakou
./. 1 - c.1699G>A r.(?) p.(Val567Ile) g.10102020G>A - FANCD2_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.1718T>C r.(?) p.(Ile573Thr) g.10102039T>C - FANCD2_000087 - - - - - - - Despoina Kalfakakou
./. 1 - c.1757C>T r.(?) p.(Ala586Val) g.10102078C>T - FANCD2_000069 - - - - - - - Despoina Kalfakakou
./. 1 - c.1766+8T>C r.(=) p.(=) g.10102095T>C - FANCD2_000120 - - - - - - - Despoina Kalfakakou
./. 3 - c.1767-24T>A r.(=) p.(=) g.10103811T>A - FANCD2_000014 - - - - - - - Despoina Kalfakakou
./. 1 - c.1767-22A>T r.(=) p.(=) g.10103813A>T - FANCD2_000081 - - - - - - - Despoina Kalfakakou
./. 1 - c.1767-14T>A r.(=) p.(=) g.10103821T>A - FANCD2_000060 - - - - - - - Despoina Kalfakakou
./. 14 - c.1777C>T r.(?) p.(Pro593Ser) g.10103845C>T - FANCD2_000027 - - - - - - - Despoina Kalfakakou
./. 2 - c.1828-31A>G r.(=) p.(=) g.10105445A>G - FANCD2_000116 - - - - - - - Despoina Kalfakakou
./. 1 - c.1828-30G>T r.(=) p.(=) g.10105446G>T - FANCD2_000113 - - - - - - - Despoina Kalfakakou
./. 2 - c.1835C>T r.(?) p.(Ser612Phe) g.10105483C>T - FANCD2_000052 - - - - - - - Despoina Kalfakakou
./. 2 - c.1848G>C r.(?) p.(Leu616Phe) g.10105496G>C - FANCD2_000067 - - - - - - - Despoina Kalfakakou
./. 1 - c.1868A>C r.(?) p.(Gln623Pro) g.10105516A>C - FANCD2_000154 rs36070315 - - - - - - Despoina Kalfakakou
./. 1 - c.1947+46C>T r.(=) p.(=) g.10105641C>T - FANCD2_000047 - - - - - - - Despoina Kalfakakou
./. 1 - c.1948-22_1948-19del r.(=) p.(=) g.10106018_10106021del - FANCD2_000093 - - - - - - - Despoina Kalfakakou
./. 1 - c.1948-19G>T r.(=) p.(=) g.10106021G>T - FANCD2_000114 - - - - - - - Despoina Kalfakakou
./. 1 - c.1984G>T r.(?) p.(Asp662Tyr) g.10106076G>T - FANCD2_000124 - - - - - - - Despoina Kalfakakou
./. 1 - c.2007T>A r.(?) p.(Cys669*) g.10106099T>A - FANCD2_000101 - - - - - - - Despoina Kalfakakou
./. 1 - c.2021+5G>A r.spl? p.? g.10106118G>A - FANCD2_000048 - - - - - - - Despoina Kalfakakou
./. 8 - c.2022-47T>C r.(=) p.(=) g.10106366T>C - FANCD2_000053 rs4019782 - - - - - - Despoina Kalfakakou
./. 2 - c.2022-43G>A r.(=) p.(=) g.10106370G>A - FANCD2_000082 - - - - - - - Despoina Kalfakakou
./. 1 - c.2022-28A>C r.(=) p.(=) g.10106385A>C - FANCD2_000130 - - - - - - - Despoina Kalfakakou
./. 9 - c.2022-27A>G r.(=) p.(=) g.10106386A>G - FANCD2_000005 rs4019783 - - - - - - Despoina Kalfakakou
./. 1 - c.2022-26C>T r.(=) p.(=) g.10106387C>T - FANCD2_000147 - - - - - - - Despoina Kalfakakou
./. 1 - c.2022-12T>A r.(=) p.(=) g.10106401T>A - FANCD2_000142 - - - - - - - Despoina Kalfakakou
./. 7 - c.2022-4G>A r.spl? p.? g.10106409G>A - FANCD2_000015 - - - - - - - Despoina Kalfakakou
./. 2 - c.2049G>A r.(=) p.(=) g.10106440G>A - FANCD2_000070 - - - - - - - Despoina Kalfakakou
./. 1 - c.2057T>C r.(?) p.(Leu686Pro) g.10106448T>C - FANCD2_000128 - - - - - - - Despoina Kalfakakou
./. 2 - c.2067C>T r.(=) p.(=) g.10106458C>T - FANCD2_000066 rs3852023 - - - - - - Despoina Kalfakakou
./. 3 - c.2085T>C r.(=) p.(=) g.10106476T>C - FANCD2_000007 - - - - - - - Despoina Kalfakakou
./. 4 - c.2141C>T r.(?) p.(Pro714Leu) g.10106532C>T - FANCD2_000162 rs3864017 - - - - - - Despoina Kalfakakou
./. 2 - c.2142G>A r.(=) p.(=) g.10106533G>A - FANCD2_000125 - - - - - - - Despoina Kalfakakou
./. 1 - c.2168+49T>C r.(=) p.(=) g.10106608T>C - FANCD2_000163 rs4019785 - - - - - - Despoina Kalfakakou
./. 1 - c.2175G>A r.(=) p.(=) g.10107084G>A - FANCD2_000105 - - - - - - - Despoina Kalfakakou
./. 1 - c.2181G>A r.(=) p.(=) g.10107090G>A - FANCD2_000106 - - - - - - - Despoina Kalfakakou
./. 4 - c.2238C>T r.(=) p.(=) g.10107147C>T - FANCD2_000088 rs35817402 - - - - - - Despoina Kalfakakou
./. 3 - c.2269+15C>T r.(=) p.(=) g.10107193C>T - FANCD2_000083 - - - - - - - Despoina Kalfakakou
./. 3 - c.2276C>T r.(?) p.(Pro759Leu) g.10107554C>T - FANCD2_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.2385+27C>T r.(=) p.(=) g.10107690C>T - FANCD2_000146 - - - - - - - Despoina Kalfakakou
./. 1 - c.2386-31G>A r.(=) p.(=) g.10108862G>A - FANCD2_000134 - - - - - - - Despoina Kalfakakou
./. 1 - c.2396C>A r.(?) p.(Ala799Asp) g.10108903C>A - FANCD2_000117 - - - - - - - Despoina Kalfakakou
./. 1 - c.2406G>T r.(?) p.(Gln802His) g.10108913G>T - FANCD2_000129 rs80258959 - - - - - - Despoina Kalfakakou
./. 5 - c.2484G>A r.(=) p.(=) g.10108991G>A - FANCD2_000029 rs55980657 - - - - - - Despoina Kalfakakou
./. 1 - c.2494+29C>T r.(=) p.(=) g.10109030C>T - FANCD2_000009 - - - - - - - Despoina Kalfakakou
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