All individuals with variants in gene PTCH1

Legend

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.

359 entries on 4 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
00014785	-	F	Athens	Olympia	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00014826	-	F	-	-	Greek	no	-	BrCa, OVCA	-	1	1	Despoina Kalfakakou
00014975	-	F	Alexandria, Egypt	Cairo	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00015205	-	F	Karditsa	Kalamata	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00015714	-	F	Chania	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00015969	-	F	Chania	Mani	Greek	no	-	PNCA2	-	1	3	Despoina Kalfakakou
00016231	-	M	Agios Nikolaos, Lasithi	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016269	-	F	Athens	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016369	-	F	Athens	Aronas, Pieria	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016370	-	F	Strimi, Rodopi	Manesi, Argos	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016383	-	F	Athens	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016429	-	F	Karditsa	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016431	-	F	Orchomenos, Boeotia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016468	-	F	Argolis	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016478	-	F	Piraeus	Crete	Greek	no	-	BrCa, OVCA	-	1	1	Despoina Kalfakakou
00016504	-	F	Larisa	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016514	-	F	Armenia	Greece	Armenian	no	-	BrCa, TRC	-	1	1	Despoina Kalfakakou
00016522	-	F	Arcadia	Messinia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016548	-	F	Thermo, Aetolia-Acarnania	Katafigio, Aetolia-Acarnania	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016569	-	F	Kazakhstan	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016573	-	F	Kato Achaia	Thessaly	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016593	-	M	Rodolivos, Serres	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016604	-	F	Greece	Austria	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016618	-	F	Kavala	Serres	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016634	-	M	-	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016647	-	M	-	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016649	-	M	-	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016671	-	M	Milies, Elis	Drepano, Achaia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016684	-	F	Elaionas, Boeotia	Avlonas, Attica Region	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016699	-	F	Kali Vrisi, Drama	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016711	-	F	Thessaloniki	-	Greek	no	-	BrCa, OVCA	-	1	2	Despoina Kalfakakou
00016743	-	F	Messinia	-	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00016771	-	F	Neapoli, Laconia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016783	-	F	Andros	Athens	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016785	-	F	Athens	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016787	-	F	Tripoli	Nafplio	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016802	-	F	Izmir	Cyclades	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016817	-	F	Ancient Epidavros	-	Greek	no	-	BrCa	-	1	3	Despoina Kalfakakou
00016822	-	F	Chrysa, Aridaia, Pella	-	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00016847	-	F	Athens	Asia Minor	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016851	-	F	Athens	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016856	-	F	Asia Minor	Patra	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016870	-	F	Epanomi, Thessaloniki	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016873	-	F	Egypt	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016876	-	F	Salamina	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016877	-	F	Iraio, Nafplio	-	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00016881	-	F	Kastoria	Athens	Greek	no	-	BrCa	-	1	3	Despoina Kalfakakou
00016896	-	F	Samos	Asia Minor	Greek	no	-	BrCa, CC, TRC	-	1	1	Despoina Kalfakakou
00016901	-	F	Pontus	Kozani	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016915	-	F	Giannitsa, Pella	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016917	-	F	Heraklion	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016925	-	F	Myrina, Lemnos	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016948	-	F	Symi	Kos	Greek	no	-	BrCa, OVCA	-	1	3	Despoina Kalfakakou
00016956	-	F	Athens	Aetolia-Acarnania	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016962	-	F	Constantinople	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016970	-	F	Nafpaktos	Serres	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016996	-	F	Amaliada	Corinth	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017034	-	F	Pyrgos, Elis	Crete	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017059	-	F	Athens	Nea Kios, Argolis	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017070	-	F	Drama	Thessaloniki	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017071	-	F	Patra	-	Greek	no	-	BrCa	-	1	6	Despoina Kalfakakou
00017095	-	F	Lappa, Achaia	Neapoli, Elis	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017100	-	F	Naxos	Karditsa	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017101	-	F	Constantinople	Thessaloniki	Greek	no	-	BrCa, CHL, ColPol	-	1	1	Despoina Kalfakakou
00017125	-	F	Kazakhstan	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017132	-	F	Istiaia, Evia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017133	-	F	Kalavryta	Athens	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017149	-	F	Athikia, Corinth	Asia Minor	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017213	-	F	Heraklion	-	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00017230	-	F	Thessaloniki	Pontus	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017248	-	F	Mandra, Attica Region	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017249	-	F	Karditsa	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017256	-	F	Syros	Evia	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00017272	-	F	Gergeri, Heraklion	-	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00017279	-	F	Chania	Arta	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017290	-	F	Corfu	Kavala	Greek	no	-	BrCa	-	3	1	Despoina Kalfakakou
00017295	-	F	Piraeus	Izmir	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017296	-	F	Achaia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017304	-	F	Alexandria, Egypt	Constantinople	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017305	-	F	Volos	Samiko, Elis	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017328	-	F	Chania	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017330	-	F	Agrinio	-	Greek	no	-	BrCa	-	1	2	Despoina Kalfakakou
00017331	-	F	Agrinio	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017333	-	F	Corfu	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017335	-	F	Cyprus	Kyparissia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017336	-	F	Messolonghi	Attica Region Region	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017342	-	F	Panopoulos, Antroni, Elis	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017356	-	F	Amfilochia	Xiromero, Aetolia-Acarnania	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017358	-	F	Asia Minor	Larisa	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017365	-	F	Athens	Kalamata	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017372	-	F	Argos Orestiko	Kalo Nero, Larisa	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017395	-	F	Crete	Paiania	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017404	-	F	Tinos	-	Greek	no	-	BrCa	-	1	7	Despoina Kalfakakou
00017409	-	F	Asia Minor	Rethymno	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017411	-	F	Kremastos, Kymi	Mytikas, Lilantia, Evia	Greek	no	-	BrCa, CRC	-	1	7	Despoina Kalfakakou
00017431	-	F	Vavouri, Thesprotia	-	Greek	no	-	BrCa	-	1	4	Despoina Kalfakakou
00017464	-	F	Aghios Vasileios, Aetolia-Acarnania	Oichalia, Trikala	Greek	no	-	BrCa	-	1	3	Despoina Kalfakakou
00017474	-	F	Chaeronea, Boeotia	-	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00017477	-	F	Klima, Dorida	Gavrolimni, Nafpaktia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017490	-	F	Ioannina	Karditsa	Greek	no	-	BrCa, OVCA	-	1	2	Despoina Kalfakakou

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

PTCH1 (patched 1)

All individuals with variants in gene PTCH1

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