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CanVaS - A Greek Cancer Patient Genetic Variation Resource
ATM (ATM serine/threonine kinase)
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Curator:
Despoina Kalfakakou
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Gender
: The gender of the reported individual.
All options:
? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male
Geographic origin
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Geographic origin
: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
Population
: Additional information on the individual's population.
Consanguinity
: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
647 entries on 7 pages. Showing entries 1 - 100.
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Individual ID
Reference
Gender
Geographic origin
Geographic origin
Population
Consanguinity
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00014967
-
F
Drama
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015066
-
F
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015170
-
F
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015205
-
F
Karditsa
Kalamata
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015211
-
F
Pournaria, Arcadia
Konitsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015238
-
F
Germany
Lamia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015301
-
F
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015304
-
F
Sitia
-
Greek
no
-
BrCa
-
1
6
Despoina Kalfakakou
00015377
-
F
Strousio, Elis
-
Greek
no
-
BrCa
-
1
5
Despoina Kalfakakou
00015378
-
F
Strousio, Elis
-
Greek
no
-
BrCa
-
1
4
Despoina Kalfakakou
00015393
-
F
Ioannina
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015398
-
F
-
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00015482
-
F
Agrinio
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00015529
-
M
Souli, Thesprotia
-
Greek
no
-
BladCa, BrCa
-
2
2
Despoina Kalfakakou
00015573
-
F
Thesprotiko, Preveza
Distrato, Ioannina
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015613
-
F
Argolis
Achaia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015629
-
F
Elassona, Larisa
-
Greek
no
-
-
-
1
2
Despoina Kalfakakou
00015714
-
F
Chania
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015774
-
F
Trikala
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015776
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015821
-
F
Evia
Serres
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015837
-
F
Crete
Rhodes
Greek
no
-
BrCa, OVCA
-
2
1
Despoina Kalfakakou
00016046
-
F
Astypalaia
-
Greek
no
-
BrCa, CHL
-
1
1
Despoina Kalfakakou
00016073
-
F
Kefalonia
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016074
-
M
Kefalonia
-
Greek
no
-
Healthy/Control
-
1
2
Despoina Kalfakakou
00016079
-
F
Pontus
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016136
-
F
Kasos
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016227
-
F
Sparti
Messinia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016254
-
F
Cyprus
-
Cypriot
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016261
-
F
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016264
-
F
Chania
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016285
-
F
Marathonas
Athens
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016286
-
F
Marathonas
Athens
Greek
no
-
BrCa, OVCA
-
1
1
Despoina Kalfakakou
00016295
-
F
Kavala
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016310
-
F
Kozani
Piraeus
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016314
-
F
Tinos
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016336
-
F
Rizolimilio, Aigio
Valtetsiniko
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016341
-
F
Pontus
Crete
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016342
-
F
Thebes
Zante
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016371
-
F
Lesvos
-
Greek
no
-
BrCa
-
2
3
Despoina Kalfakakou
00016373
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016390
-
F
Neos Erineos, Achaia
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016391
-
F
Neos Erineos, Achaia
-
Greek
no
-
Healthy/Control
-
1
2
Despoina Kalfakakou
00016398
-
F
Athens
Xanthi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016401
-
F
Drama
Nea Flogita, Chalkidiki
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016424
-
F
Karditsa
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016429
-
F
Karditsa
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016436
-
F
Megalopoli, Arcadia
-
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00016438
-
F
Crete
Evia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016439
-
F
Crete
-
Greek
no
-
OVCA
-
1
2
Despoina Kalfakakou
00016447
-
M
Agrinio
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016463
-
F
Taxiarchis, Chalkidiki
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016464
-
F
Albania
-
Albanian
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016468
-
F
Argolis
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016469
-
F
Cyprus
-
Cypriot
no
-
BrCa
-
4
1
Despoina Kalfakakou
00016473
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016481
-
F
Sparti
Agios Petros, Cynuria
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016482
-
F
Megalopoli, Arcadia
Chania
Greek
no
-
BrCa
-
1
4
Despoina Kalfakakou
00016484
-
F
Chania
-
Greek
no
-
CRC
-
1
3
Despoina Kalfakakou
00016485
-
F
Heraklion, Crete
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016490
-
F
Filiatra, Messinia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016492
-
F
Thessaloniki
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016509
-
F
Crete
Ermioni
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016520
-
F
Kos
Lygourio, Argolis
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016521
-
F
Preveza
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016522
-
F
Arcadia
Messinia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016534
-
M
Mandra
Kefalonia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016535
-
F
Crete
Katouna, Aetolia-Acarnania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016566
-
F
Argithea, Karditsa
Anthiro, Karditsa
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00016567
-
F
Sparti
Argos
Greek
no
-
BrCa
-
2
2
Despoina Kalfakakou
00016571
-
F
Kastellorizo
-
Greek
no
-
CRC, OVCA
-
1
2
Despoina Kalfakakou
00016580
-
F
Lamia
Evrytania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016587
-
F
Messinia
-
Greek
no
-
BrCa, OVCA
-
1
2
Despoina Kalfakakou
00016592
-
M
-
-
Greek
no
-
BrCa, SkCa
-
1
1
Despoina Kalfakakou
00016593
-
M
Rodolivos, Serres
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016595
-
F
Poros
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016596
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016600
-
F
Galatas, Troizinia
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016604
-
F
Greece
Austria
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016606
-
M
Trebisonda
Pyrgos, Elis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016607
-
F
Reichea, Laconia
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016621
-
F
Ioannina
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016622
-
F
Albania
-
Albanian
no
-
BrCa, OVCA
-
2
1
Despoina Kalfakakou
00016623
-
F
Nafplio
-
Greek
no
-
BrCa, TRC
-
1
1
Despoina Kalfakakou
00016624
-
F
Mytilene
Athens
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016633
-
M
-
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016636
-
M
-
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016637
-
M
-
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016649
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016653
-
F
Mytilene
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016660
-
F
Peloponnese
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016665
-
F
Kefalonia
Kalamata
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016671
-
M
Milies, Elis
Drepano, Achaia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016674
-
F
Piraeus
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016686
-
F
Argos
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016689
-
F
Zacharo, Elis
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016704
-
F
Dimini, Volos
Volos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016706
-
F
Aigaleo
-
Greek
no
-
BrCa
-
2
3
Despoina Kalfakakou
00016707
-
F
Aigaleo
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016711
-
F
Thessaloniki
-
Greek
no
-
BrCa, OVCA
-
2
2
Despoina Kalfakakou
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