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CanVaS - A Greek Cancer Patient Genetic Variation Resource
ERCC2 (ERCC excision repair 2, TFIIH core complex h...)
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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.
208 entries on 3 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
00015132
-
F
Doksato, Drama
Panormos, Asia Minor
Greek
no
-
BrCa, VagCa
-
1
1
Despoina Kalfakakou
00015301
-
F
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015969
-
F
Chania
Mani
Greek
no
-
PNCA2
-
1
3
Despoina Kalfakakou
00016227
-
F
Sparti
Messinia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016262
-
F
Nea Artaki, Chalkida
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016305
-
F
Aridaia, Pella
Liksouri, Kefalonia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016330
-
F
Milos
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016331
-
F
Piraeus
Milos
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016370
-
F
Strimi, Rodopi
Manesi, Argos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016371
-
F
Lesvos
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016383
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016389
-
F
Distomo, Boeotia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016392
-
F
Santorini
Evia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016415
-
F
Drama
-
Greek
no
-
BrCa, CC
-
2
1
Despoina Kalfakakou
00016433
-
F
Skarfeia, Phthiotis
Kolaka, Phthiotis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016468
-
F
Argolis
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016501
-
F
Karditsa
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016507
-
F
Izmir
Patra
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016511
-
F
Spetses
Laconia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016534
-
M
Mandra
Kefalonia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016542
-
F
Lampiotes, Rethymno
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016550
-
F
Argalasti, Pelion
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016586
-
F
Greece
Romania
Romanian
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016601
-
F
Lamia
-
Greek
no
-
OVCA
-
1
4
Despoina Kalfakakou
00016614
-
F
Messinia
Karditsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016615
-
F
Rizovouni, Preveza
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016616
-
F
Serres
Thessaloniki
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016624
-
F
Mytilene
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016626
-
F
Serres
Asia Minor
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016636
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016657
-
F
Chios
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016717
-
F
Ampelonas, Elis
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016783
-
F
Andros
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016811
-
F
Perigiali, Corinth
Kavala
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016835
-
F
Ancient Epidavros
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016836
-
F
Agiovlastika, Achaia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016861
-
F
-
Chania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016870
-
F
Epanomi, Thessaloniki
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016880
-
F
Aridia, Pella
Loudias, Thessaloniki
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016904
-
F
Karditsa
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016915
-
F
Giannitsa, Pella
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016919
-
F
Rethymno
Kefalonia
Greek
no
-
BrCa
-
1
7
Despoina Kalfakakou
00016938
-
F
Asia Minor
Elis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016955
-
F
Mani
Aliartos, Boeotia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016961
-
F
Thesprotia
Elis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016962
-
F
Constantinople
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016969
-
F
Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017003
-
F
Kymi, Evia
Limni, Evia
Greek
no
-
CUP
-
1
1
Despoina Kalfakakou
00017030
-
F
Arta
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017081
-
F
Corinth
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00017083
-
F
Xylagani, Rodhope
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017086
-
F
Milos
Lavrio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017102
-
F
Russia
Pyrgos, Elis
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00017115
-
F
Patra
Galatas, Messolonghi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017120
-
F
Diavolitsi, Messinia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017135
-
F
Patra
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017149
-
F
Athikia, Corinth
Asia Minor
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017221
-
F
Kavala
Sofades, Karditsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017222
-
F
Karres, Apokoronos, Chania
-
Greek
no
-
BrCa, UtPol
-
1
1
Despoina Kalfakakou
00017239
-
F
Argostoli
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017242
-
F
Peloponnese
Karystos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017262
-
F
Chalkida
Thessaloniki
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017334
-
F
Megalopoli, Arcadia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017341
-
F
Karystos, Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017346
-
F
Andros
Nemea
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017373
-
F
Strousi, Elis
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017391
-
F
Trikala
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017395
-
F
Crete
Paiania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017397
-
F
Rethymno
Heraklion
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017437
-
F
Piraeus
Kythira
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017457
-
F
Santorini
Rhodes
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017463
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017503
-
F
Asia Minor
Veroia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017505
-
F
Evros
Sesklo, Volos
Greek
no
-
BrCa, OvTer
-
1
1
Despoina Kalfakakou
00017512
-
F
Rethymno
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017530
-
F
Asia Minor
Kavala
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017587
-
F
Piraeus
Gytheio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017604
-
F
Raveni, Thesprotia
Anthrakitis, Zagorochoria, Ioannina
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017788
-
F
Peloponnese
Piraeus
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017789
-
F
Grevena
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017797
-
F
Lagkadas, Thessaloniki
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017803
-
F
Acharnes
-
Greek
no
-
BrCa, CMM2
-
1
1
Despoina Kalfakakou
00017805
-
F
Constantinople
Argolis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017818
-
F
Elis
Zante
Greek
no
-
BrCa, CHLC
-
1
1
Despoina Kalfakakou
00017867
-
F
Thesprotia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017871
-
F
Larisa
Trikala
Greek
no
-
BrCa, CRC
-
1
1
Despoina Kalfakakou
00017891
-
F
Germany
United Kingdom
NGE
no
-
BrCa, CMM2
-
1
1
Despoina Kalfakakou
00017907
-
F
Heraklion
Kythnos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017908
-
F
Alexandria, Egypt
Mytilene
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017910
-
F
Ioannina
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017915
-
F
Trikala
Aghia, Larisa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017918
-
F
Asia Minor
Theriso, Chania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017925
-
F
Sfakia
Lakkoi, chania
Greek
no
-
BrCa, ColPol
-
1
1
Despoina Kalfakakou
00017942
-
F
Aspropyrghos
Dervenochoria
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017949
-
F
Pontus
Karditsa
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00017951
-
F
Piraeus
Arcadia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017969
-
F
Attalia, Turkey
Peloponnese
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017973
-
F
Zevgolatio, Corinth
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017976
-
F
Koynina, Aigio
Kerinia, Aigio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017984
-
F
Asia Minor
Nafplio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
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