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CanVaS - A Greek Cancer Patient Genetic Variation Resource
SBDS (SBDS ribosome maturation factor)
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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.
106 entries on 2 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
00015523
-
F
Krapsi, Ioannina
-
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016254
-
F
Cyprus
-
Cypriot
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016277
-
F
Ithaca
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016311
-
F
Athens
Xanthi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016389
-
F
Distomo, Boeotia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016535
-
F
Crete
Katouna, Aetolia-Acarnania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016578
-
F
Mytilene
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016621
-
F
Ioannina
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016686
-
F
Argos
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016711
-
F
Thessaloniki
-
Greek
no
-
BrCa, OVCA
-
1
2
Despoina Kalfakakou
00016726
-
F
Cyprus
Izmir
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016748
-
M
Narte Vlore, Albania
-
Albanian
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016756
-
F
Komotini
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016768
-
F
Andravida, Elis
Leros
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00016771
-
F
Neapoli, Laconia
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016773
-
F
Elis
Constantinople
Greek
no
-
BrCa, CRC, TRC
-
3
1
Despoina Kalfakakou
00016774
-
F
Argithea, Agrafa
-
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00016775
-
F
Platanos, Kissamos, Chania
-
Greek
no
-
BrCa
-
2
4
Despoina Kalfakakou
00016783
-
F
Andros
Athens
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016786
-
F
Amykles, Laconia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016817
-
F
Ancient Epidavros
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016832
-
F
Messini
-
Greek
no
-
OVCA
-
1
5
Despoina Kalfakakou
00016836
-
F
Agiovlastika, Achaia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016870
-
F
Epanomi, Thessaloniki
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016881
-
F
Kastoria
Athens
Greek
no
-
BrCa
-
2
3
Despoina Kalfakakou
00016891
-
F
Thessaloniki
Argos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016900
-
F
Patra
-
Greek
no
-
BrCa, NF1
-
1
1
Despoina Kalfakakou
00016910
-
F
Aptera, Chania
-
Greek
no
-
BrCa
-
1
5
Despoina Kalfakakou
00016913
-
F
Agrinio
-
Greek
no
-
BrCa
-
3
1
Despoina Kalfakakou
00016914
-
F
Epirus
Evia
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016941
-
M
Skliva, Elis
-
Greek
no
-
BrCa
-
4
1
Despoina Kalfakakou
00017069
-
F
Salichli, Asia Minor
Domokos
Greek
no
-
BrCa, OVCA
-
2
1
Despoina Kalfakakou
00017300
-
F
Kalavryta
Patra
Greek
no
-
BrCa, TRC
-
1
2
Despoina Kalfakakou
00017509
-
F
Patra
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017532
-
F
Pafos, Cyprus
-
Cypriot
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017581
-
F
Potidaneia, Phocis
Nafpaktos
Greek
no
-
BrCa, ColPol
-
1
1
Despoina Kalfakakou
00017784
-
F
Kythera
Corfu
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017820
-
F
Grevena
Mytilene
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017823
-
F
Evia
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017863
-
F
Mytilene
Sparta
Greek
no
-
BrCa, RCC
-
1
1
Despoina Kalfakakou
00017867
-
F
Thesprotia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017873
-
F
Amalias, Elis
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017909
-
F
Asia Minor
Chania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017915
-
F
Trikala
Aghia, Larisa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017952
-
F
Poland
Epirus
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017954
-
F
Karya, Elassona
Kallipefki, Larisa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017984
-
F
Asia Minor
Nafplio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00019261
-
F
Elis
Zante
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019272
-
F
Trikala
-
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019382
-
F
Egypt
-
Egyptian
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019878
-
M
Methoni, Messenia
Desillas, Messenia
Greek
no
-
CRC
-
2
1
Despoina Kalfakakou
00020013
-
F
Asia Minor
-
Greek
no
-
CRC, ENC, SkCa
-
3
1
Despoina Kalfakakou
00020042
-
F
Kefalonia
Amaliada
Greek
no
-
ColPol
-
1
1
Despoina Kalfakakou
00020169
-
F
Levidi, Arcadia
Prinos, Thasos
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020195
-
F
Heraklion, Crete
Tegea, Arcadia
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020218
-
F
Corinthia
Lesvos
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020396
-
M
Athens
Florina
Greek
no
-
PNCA2
-
3
1
Despoina Kalfakakou
00020443
-
M
Messenia
Varna, Bulgaria
Greek
no
-
ColPol, LuCa, PrCa
-
2
1
Despoina Kalfakakou
00020454
-
M
Georgia
-
Greek
no
-
PrCa
-
1
2
Despoina Kalfakakou
00020713
-
F
-
-
Greek
no
-
-
-
2
1
Despoina Kalfakakou
00020775
-
F
Asia Minor
Rethimno, Crete
Greek
no
-
AML, BrCa, CRC, PNCA2, TRC
-
3
1
Despoina Kalfakakou
00020967
-
F
Trikala
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021021
-
F
-
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021137
-
F
Ios
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021231
-
F
England
-
Greek
no
-
OVCA
-
2
3
Despoina Kalfakakou
00021240
-
F
Ptolemaida
Nemea
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021246
-
F
-
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021273
-
F
Kavala Asia Minor
Thera
Greek
no
-
OVCA
-
3
1
Despoina Kalfakakou
00021291
-
F
Tripoli
-
Greek
no
-
OVCA
-
5
3
Despoina Kalfakakou
00021319
-
F
-
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021374
-
F
Skopelos
Athens
Greek
no
-
OVCA
-
1
2
Despoina Kalfakakou
00021376
-
F
Ethiopia
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021470
-
F
Kastellorizo Hydra Symi
Northern Epirus
Greek
no
-
OVCA, TRC
-
1
1
Despoina Kalfakakou
00021548
-
F
Corfu
-
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021572
-
F
Elati, Phthiotis
Kryoneri
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021592
-
F
Phocis
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021608
-
F
-
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021659
-
F
Heraklion
-
Greek
no
-
OVCA
-
3
1
Despoina Kalfakakou
00021666
-
F
Ukraine
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021692
-
F
Halkidiki
-
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021694
-
F
Piraeus
Florina
Greek
no
-
OVCA
-
8
1
Despoina Kalfakakou
00021701
-
F
Sifnos
-
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021703
-
F
Thessaloniki
Xanthi
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021709
-
F
-
-
Greek
no
-
ENC, OVCA
-
2
1
Despoina Kalfakakou
00021724
-
F
Mazi , Konitsa
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021787
-
F
Arna, Laconia
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021790
-
F
Asia Minor
İzmir
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00022009
-
M
Kefalonia
-
-
-
-
PANCA
-
1
1
Despoina Kalfakakou
00022013
-
F
Kalamata
Athens
-
-
-
ENC, EnPol
-
2
1
Despoina Kalfakakou
00022040
-
F
Sidirokastro, Serres
France
-
-
-
BrCa
-
1
1
Stevi Xera
00022041
-
F
Euboea
-
-
-
-
BrCa
-
1
1
Stevi Xera
00022052
-
F
Pontus
Kefalonia
-
-
-
BrCa
-
1
1
Stevi Xera
00022059
-
F
Ioannina
Arta
-
-
-
BrCa
-
1
1
Stevi Xera
00022060
-
F
Edessa
-
-
-
-
BrCa
-
1
2
Stevi Xera
00022062
-
F
Edessa
-
-
-
-
BrCa
-
1
2
Stevi Xera
00022063
-
F
Karditsa
-
-
-
-
BrCa
-
1
1
Stevi Xera
00022066
-
F
Gjirokaster, Albania
-
-
-
-
BrCa
-
1
1
Stevi Xera
00022068
-
F
Messenia
-
-
-
-
Healthy/Control
-
1
1
Stevi Xera
00022069
-
F
Stavros, Larissa
Sofades, Karditsa
-
-
-
BrCa
-
1
1
Stevi Xera
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