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CanVaS - A Greek Cancer Patient Genetic Variation Resource
PMS1 (PMS1 homolog 1, mismatch repair system component)
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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.
124 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
00015273
-
F
Komotini
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00015837
-
F
Crete
Rhodes
Greek
no
-
BrCa, OVCA
-
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
00016392
-
F
Santorini
Evia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016401
-
F
Drama
Nea Flogita, Chalkidiki
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016439
-
F
Crete
-
Greek
no
-
OVCA
-
1
2
Despoina Kalfakakou
00016470
-
F
Russia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016509
-
F
Crete
Ermioni
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016511
-
F
Spetses
Laconia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016542
-
F
Lampiotes, Rethymno
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016569
-
F
Kazakhstan
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016589
-
F
Valimitika, Aigio
Kymi, Evia
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016640
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016650
-
F
-
-
Greek
no
-
OVCA
-
1
3
Despoina Kalfakakou
00016767
-
F
Karditsa
Corfu
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016788
-
F
Livadi, Elassona
Nea Trapezounta, Pieria
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016790
-
F
Corfu
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016828
-
F
Istiaia, Evia
Grammatiko, Aetolia-Acarnania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016837
-
F
Tripoli
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016841
-
F
Aegina
Chania
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016850
-
F
Drama
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016859
-
F
Stolos, Kynouria
Elaiochorio, Kynouria
Greek
no
-
BrCa, ColPol, SkCa, TRC
-
1
1
Despoina Kalfakakou
00016934
-
F
Arcadia
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016937
-
F
Elos, Laconia
Elliniko, Arcadia
Greek
no
-
BrCa
-
1
2
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
00017003
-
F
Kymi, Evia
Limni, Evia
Greek
no
-
CUP
-
1
1
Despoina Kalfakakou
00017016
-
F
Peloponnese
Izmir
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017055
-
F
Voulpi, Evrytania
Epiniana, Evrytania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017071
-
F
Patra
-
Greek
no
-
BrCa
-
1
6
Despoina Kalfakakou
00017094
-
F
Athens
Messolonghi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017242
-
F
Peloponnese
Karystos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017302
-
F
Athens
Symi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017321
-
F
Avlonari, Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017344
-
F
Petalidi, Mesinia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017358
-
F
Asia Minor
Larisa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017362
-
F
Corfu
Karystos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017435
-
F
Crete
Thavmakos, Phthiotis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017474
-
F
Chaeronea, Boeotia
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017538
-
F
Chania
-
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00017573
-
F
Milos
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017614
-
F
Asia Minor
-
Greek
no
-
BrCa, TRC
-
1
1
Despoina Kalfakakou
00017772
-
F
Aghios Nicolaos
Kritsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017793
-
F
Patra
Livadeia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017834
-
F
Corinth
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017884
-
F
Tripoli
Soufli
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00017920
-
F
Evraiki, Chios
Volos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017933
-
F
Philippines
-
Filipino
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017937
-
F
Patra
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017943
-
F
Vagia, Thebes
Ioannina
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017963
-
F
Corinth
Xylokastro
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017965
-
F
Kymi, Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017984
-
F
Asia Minor
Nafplio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00019234
-
F
Kalamata
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00019352
-
F
Kozani
-
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019389
-
F
Trikala
Lesvos
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019427
-
F
Kalavryta
-
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019429
-
F
Karditsa
Tithorea, Phthiotis
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019560
-
F
Metsovo
Ioannina
Greek
no
-
Healthy/Control
-
1
1
Despoina Kalfakakou
00019843
-
M
Ilia
-
Greek
no
-
CRC
-
1
1
Despoina Kalfakakou
00019870
-
M
Trikala
-
Greek
no
-
ColPol
-
1
1
Despoina Kalfakakou
00019876
-
F
Anogia, Laconia
-
Greek
no
-
ColPol
-
1
2
Despoina Kalfakakou
00019893
-
M
Almiros, Volos
-
Greek
no
-
Polyposis
-
1
3
Despoina Kalfakakou
00019964
-
M
Athens
Drama
Greek
no
-
CRC
-
1
1
Despoina Kalfakakou
00020025
-
F
Zimbabwe
-
Zimbabwe
no
-
CRC
-
4
1
Despoina Kalfakakou
00020058
-
F
Ioannina
-
Greek
no
-
Polyposis, TRC
-
1
2
Despoina Kalfakakou
00020156
-
F
Karditsa
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020164
-
F
Kita, Laconia
Stavroupoli, Xanthi
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020167
-
F
Chania, Crete
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020218
-
F
Corinthia
Lesvos
Greek
no
-
-
-
2
1
Despoina Kalfakakou
00020396
-
M
Athens
Florina
Greek
no
-
PNCA2
-
1
1
Despoina Kalfakakou
00020418
-
M
Lakkopetra, Achaea
-
Greek
no
-
PNCA2
-
1
1
Despoina Kalfakakou
00020424
-
M
Volos
Pontus
Greek
no
-
PNCA2
-
1
1
Despoina Kalfakakou
00020440
-
M
-
-
Greek
no
-
PrCa
-
2
1
Despoina Kalfakakou
00020459
-
M
Euboea
Attika
Greek
no
-
PrCa
-
1
1
Despoina Kalfakakou
00020467
-
M
Ilia
Constantinople
Greek
no
-
PrCa, RCC
-
1
1
Despoina Kalfakakou
00020571
-
M
Kalamata
-
Greek
no
-
RCC
-
1
1
Despoina Kalfakakou
00020696
-
F
-
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020697
-
F
-
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020702
-
F
-
-
Greek
no
-
-
-
1
1
Despoina Kalfakakou
00020746
-
F
Athens
Crete
Greek
no
-
BrCa, SCT
-
1
1
Despoina Kalfakakou
00020767
-
M
Drama
-
Greek
no
-
LuCa
-
1
1
Despoina Kalfakakou
00020768
-
M
Chalkidiki
-
Greek
no
-
AoVCa
-
1
1
Despoina Kalfakakou
00020776
-
F
Kalamata
-
Greek
no
-
Pheo
-
1
1
Despoina Kalfakakou
00020801
-
F
Smyrna
Agrinio
Greek
no
-
BKT
-
1
1
Despoina Kalfakakou
00020806
-
M
Psachna, Euboea
-
Greek
no
-
CRC, PNCA2
-
1
1
Despoina Kalfakakou
00020809
-
F
Lamia
Thessaloniki
Greek
no
-
BKT, CS, PPB
-
1
1
Despoina Kalfakakou
00020822
-
F
Monemvasia
Spetses
Greek
no
-
NF
-
1
1
Despoina Kalfakakou
00020870
-
F
Volos
Livadia
Greek
no
-
RB1, RMSRCM
-
1
1
Despoina Kalfakakou
00020915
-
M
Athens
Mani
Greek
no
-
BonMal, CAL
-
1
1
Despoina Kalfakakou
00021048
-
F
-
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021078
-
F
Poros
-
Greek
no
-
OVCA
-
1
3
Despoina Kalfakakou
00021081
-
F
Lefkada
Zakynthos
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021091
-
F
-
-
Greek
no
-
OVCA
-
2
1
Despoina Kalfakakou
00021197
-
F
Greeks of Australia
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021234
-
F
Albania
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021287
-
F
Agrinio
-
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
00021342
-
F
Pesta, Ioannina
-
Greek
no
-
OVCA
-
1
3
Despoina Kalfakakou
00021382
-
F
Kithnos &Andros
Andros
Greek
no
-
OVCA
-
1
1
Despoina Kalfakakou
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