Full data view for gene XPA

Information The variants shown are described using the NM_000380.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-22A>G r.(=) p.(=) Parent #2 g.100459596T>C - XPA_000010 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - M Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) Parent #2 g.100459596T>C - XPA_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) Parent #2 g.100459596T>C - XPA_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Phocis Greek no - 1 Despoina Kalfakakou
./. - c.-22A>G r.(=) p.(=) Parent #2 g.100459596T>C - XPA_000010 - - - - - - - DNA SEQ-NG-I 1 ENC - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.13G>T r.(?) p.(Asp5Tyr) Parent #2 g.100459562C>A - XPA_000014 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kavasida, Elis Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.19G>A r.(?) p.(Ala7Thr) Parent #2 g.100459556C>T - XPA_000013 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Andros - Greek no - 1 Despoina Kalfakakou
./. - c.19G>A r.(?) p.(Ala7Thr) Parent #2 g.100459556C>T - XPA_000013 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Moschofito,Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.66C>T r.(=) p.(=) Parent #2 g.100459509G>A - XPA_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Cyclades Greek no - 1 Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) Parent #2 g.100459453G>A - XPA_000001 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - F Chania Mani Greek no - 3 Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) Parent #2 g.100459453G>A - XPA_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Zagora, Pelion Volos Greek no - 1 Despoina Kalfakakou
./. - c.122C>T r.(?) p.(Ala41Val) Parent #2 g.100459453G>A - XPA_000001 - - - - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Lesbos Crete Greek no - 1 Despoina Kalfakakou
./. - c.172+11C>T r.(=) p.(=) Parent #2 g.100459392G>A - XPA_000021 - - - - - - - DNA SEQ-NG-I 1 Schw - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.172+11C>T r.(=) p.(=) Parent #2 g.100459392G>A - XPA_000021 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
./. - c.173-27G>A r.(=) p.(=) Parent #2 g.100456068C>T - XPA_000023 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.173-24G>T r.(=) p.(=) Parent #2 g.100456065C>A - XPA_000015 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.173-5_173-4insT r.spl? p.? Parent #2 g.100456045_100456046insA - XPA_000022 - - - - - - - DNA SEQ-NG-I 1 Pheo - F Asia Minor Pontus Greek no - 1 Despoina Kalfakakou
./. - c.273T>A r.(=) p.(=) Parent #2 g.100455941A>T - XPA_000020 - - - - - - - DNA SEQ-NG-I 1 - - F Alexandria, Egypt Serres Greek no - 1 Despoina Kalfakakou
./. - c.283+6G>A r.(=) p.(=) Parent #2 g.100455925C>T - XPA_000019 - - - - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.283+6G>A r.(=) p.(=) Parent #2 g.100455925C>T - XPA_000019 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Zaros, Heraklion Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.283+40A>G r.(=) p.(=) Parent #2 g.100455891T>C - XPA_000025 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.284-17_284-14del r.(=) p.(=) Parent #2 g.100451935_100451938del - XPA_000018 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Ioannina Karditsa Greek no - 2 Despoina Kalfakakou
./. - c.390-35A>C r.(=) p.(=) Parent #2 g.100449578T>G - XPA_000016 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Karpochori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.390-13A>C r.(=) p.(=) Parent #2 g.100449556T>G - XPA_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.390-13A>C r.(=) p.(=) Parent #2 g.100449556T>G - XPA_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.555+11del r.(=) p.(=) Parent #2 g.100449367del - XPA_000008 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 6 Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) Parent #2 g.100447375_100447380del - XPA_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) Parent #2 g.100447375_100447380del - XPA_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Naxos Xanthi Greek no - 2 Despoina Kalfakakou
./. - c.556-58_556-53del r.(=) p.(=) Parent #2 g.100447375_100447380del - XPA_000003 - - - - - - - DNA SEQ-NG-I 1 ColPol - M Aigio Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.556-46G>A r.(=) p.(=) Parent #2 g.100447368C>T - XPA_000002 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Agriani, Serres Gazoros, Serres Greek no - 1 Despoina Kalfakakou
./. - c.556-25T>C r.(=) p.(=) Parent #2 g.100447347A>G - XPA_000012 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Ano Alissos, Patra - Greek no - 1 Despoina Kalfakakou
./. - c.619C>T r.(?) p.(Arg207*) Parent #2 g.100447259G>A - XPA_000017 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos & Ierapetra Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.673+20A>G r.(=) p.(=) Parent #2 g.100447185T>C - XPA_000009 - - - - - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa - M Kamenianoi, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.674-2A>G r.spl? p.? Parent #2 g.100437871T>C - XPA_000024 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Psari, Messenia Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.696C>T r.(=) p.(=) Parent #2 g.100437847G>A - XPA_000026 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.716C>T r.(?) p.(Thr239Met) Parent #2 g.100437827G>A - XPA_000005 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres Imathia Greek no - 1 Despoina Kalfakakou
./. - c.759A>T r.(?) p.(Glu253Asp) Parent #2 g.100437784T>A - XPA_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Nea Koutali, Lemnos Kallithea, Lemnos Greek no - 3 Despoina Kalfakakou
./. - c.772_785del r.(?) p.(Arg258Tyrfs*5) Parent #2 g.100437758_100437771del - XPA_000011 - - - - - - - DNA SEQ-NG-I 1 ColPol - M Chania, Crete Kastellorizo Greek no - 1 Despoina Kalfakakou
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