Full data view for gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
Legend  

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.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Messinia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Agios Petros, Cynuria Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Evrytania Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Izmir Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 2 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Volos Athens Greek no - 2 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Koilada, Argolis Greek no - 6 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Mochos, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Nea Kios, Argolis Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa, EnPol - F Aigio - Greek no - 3 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Both (homozygous) g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Dafni, Kalavryta - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Rumelia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 ColPol, EnPol, SkCa, TRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Athens Peloponnese Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 Pheo - F Mousoura, Missolonghi - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 PGL2 - M Palairos, Etolia-Akarnania Monastiraki, Aetolia-Acarnania Greek no - 3 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 LuCa, RCC, TRC - M Paramythia, Thesprotia Magoula, Laconia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 CMM3, LuCa, RCC - M Zakynthos Kyllini, Ilia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 - - M Neapoli, Laconia Metsovo Greek-Romanian no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor & Kavala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Thalames, Messenia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Larisa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens United Kingdom Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Germany United Kingdom NGE no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala & Athens Thera & Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corinth - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Karpenisi Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Anemorrachi, Arta - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Constantinople Greek no - 2 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
-?/-? - c.5558A>T r.(?) p.(Asp1853Val) Parent #2 g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Syros & Aigio Drama Greek no - 1 Despoina Kalfakakou
Legend