Full data view for gene RAD51D

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

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.26G>C r.(?) p.(Cys9Ser) Parent #2 g.33446607C>G - RAD51D_000022 - - - - DNA SEQ-NG-I 1 MDB - F Kefalonia Neapoli, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.33C>T r.(=) p.(=) Parent #2 g.33446600G>A - RAD51D_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.71G>A r.(?) p.(Arg24Lys) Parent #2 g.33446562C>T - RAD51D_000026 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.82+49T>A r.(=) p.(=) Parent #2 g.33446502A>T - RAD51D_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion, Crete & Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.144+31G>A r.(=) p.(=) Parent #2 g.33446099C>T - RAD51D_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Symi Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.145-40C>T r.(=) p.(=) Parent #2 g.33445678G>A - RAD51D_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Armenia - Greek no - 3 Despoina Kalfakakou
./. - c.145-40C>T r.(=) p.(=) Parent #2 g.33445678G>A - RAD51D_000002 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalamata Athens Greek no - 1 Despoina Kalfakakou
./. - c.145-39G>T r.(=) p.(=) Parent #2 g.33445677C>A - RAD51D_000023 rs7207508 - - - DNA SEQ-NG-I 1 BrCa - F Chloi, Magnesia Velestino Greek no - 4 Despoina Kalfakakou
./. - c.145-5G>C r.spl? p.? Parent #2 g.33445643C>G - RAD51D_000016 - - - - DNA SEQ-NG-I 1 - - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.196G>A r.(?) p.(Val66Met) Parent #2 g.33445587C>T - RAD51D_000008 rs56026142 - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.345+26G>T r.(=) p.(=) Parent #2 g.33434359C>A - RAD51D_000018 - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.384G>C r.(=) p.(=) Parent #2 g.33434103C>G - RAD51D_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.384G>C r.(=) p.(=) Parent #2 g.33434103C>G - RAD51D_000006 - - - - DNA SEQ-NG-I 1 MNGM - M Constantinople Russia Greek no - 1 Despoina Kalfakakou
./. - c.412A>C r.(?) p.(Asn138His) Parent #2 g.33434075T>G - RAD51D_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.412A>C r.(?) p.(Asn138His) Parent #2 g.33434075T>G - RAD51D_000005 - - - - DNA SEQ-NG-I 1 ColPol - M Aigio Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.480+40_480+41insCA r.(=) p.(=) Parent #2 g.33433966_33433967insTG - RAD51D_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.493C>T r.(?) p.(Arg165Trp) Parent #2 g.33433488G>A - RAD51D_000021 - - - - DNA SEQ-NG-I 1 HMGM, Pheo, PNCA2, RCC - F Epiniana, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.556C>T r.(?) p.(Arg186*) Parent #2 g.33433425G>A - RAD51D_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.577-15C>T r.(=) p.(=) Parent #2 g.33430578G>A - RAD51D_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.577G>T r.(?) p.(Val193Leu) Parent #2 g.33430563C>A - RAD51D_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.594A>T r.(=) p.(=) Parent #2 g.33430546T>A - RAD51D_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Nea Figaleia, Elis Cypriot no - 5 Despoina Kalfakakou
./. - c.667+9T>C r.(=) p.(=) Parent #2 g.33430464A>G - RAD51D_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Germany Ierapetra Greek no - 1 Despoina Kalfakakou
./. - c.667+9T>C r.(=) p.(=) Parent #2 g.33430464A>G - RAD51D_000015 - - - - DNA SEQ-NG-I 1 ColPol, HMGM, MNGM, NF, TRC - F Arnissa, Edessa Serres Greek no - 1 Despoina Kalfakakou
./. - c.695G>A r.(?) p.(Arg232Gln) Parent #2 g.33430316C>T - RAD51D_000007 rs28363283 - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.695G>A r.(?) p.(Arg232Gln) Parent #2 g.33430316C>T - RAD51D_000007 rs28363283 - - - DNA SEQ-NG-I 1 ENC - F Edessa - Greek no - 1 Despoina Kalfakakou
./. - c.695G>A r.(?) p.(Arg232Gln) Parent #2 g.33430316C>T - RAD51D_000007 rs28363283 - - - DNA SEQ-NG-I 1 PNCA2 - M Kritsa, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.738+51C>G r.(=) p.(=) Parent #2 g.33430222G>C - RAD51D_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Santorini Greek no - 1 Despoina Kalfakakou
./. - c.785C>T r.(?) p.(Pro262Leu) Parent #2 g.33428338G>A - RAD51D_000020 - - - - DNA SEQ-NG-I 1 GC - F Vounario, Ilia Epitalio, Ilia Greek no - 1 Despoina Kalfakakou
./. - c.796C>T r.(?) p.(Arg266Cys) Parent #2 g.33428327G>A - RAD51D_000001 - - - - DNA SEQ-NG-I 1 BrCa, PGL4 - F Sparti - Greek no - 1 Despoina Kalfakakou
./. - c.796C>T r.(?) p.(Arg266Cys) Parent #2 g.33428327G>A - RAD51D_000001 - - - - DNA SEQ-NG-I 1 ColPol - M Athens Alexandria, Imathia Greek no - 6 Despoina Kalfakakou
./. - c.796C>T r.(?) p.(Arg266Cys) Parent #2 g.33428327G>A - RAD51D_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Dafni, Kalavryta Athens Greek no - 2 Despoina Kalfakakou
./. - c.796C>T r.(?) p.(Arg266Cys) Parent #2 g.33428327G>A - RAD51D_000001 - - - - DNA SEQ-NG-I 1 CUP - F Syros Athens Greek no - 1 Despoina Kalfakakou
./. - c.803G>A r.(?) p.(Trp268*) Parent #2 g.33428320C>T - RAD51D_000019 - - - - DNA SEQ-NG-I 1 - - F Amfilochia Argolis Greek no - 1 Despoina Kalfakakou
./. - c.900A>G r.(=) p.(=) Parent #2 g.33428223T>C - RAD51D_000017 - - - - DNA SEQ-NG-I 1 - - F Crete - Greek no - 1 Despoina Kalfakakou
./. - c.903+40del r.(=) p.(=) Parent #2 g.33428180del - RAD51D_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
./. - c.903+40del r.(=) p.(=) Parent #2 g.33428180del - RAD51D_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.904-11T>A r.(=) p.(=) Parent #2 g.33428066A>T - RAD51D_000009 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Egypt - Egyptian no - 1 Despoina Kalfakakou
./. - c.932T>A r.(?) p.(Ile311Asn) Parent #2 g.33428027A>T - RAD51D_000010 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 2 Despoina Kalfakakou
./. - c.932T>A r.(?) p.(Ile311Asn) Parent #2 g.33428027A>T - RAD51D_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Ithomi, Karditsa Emmanouil Pappas, Serres Greek no - 1 Despoina Kalfakakou
./. - c.932T>A r.(?) p.(Ile311Asn) Parent #2 g.33428027A>T - RAD51D_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
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