Full data view for gene PRKAR1A

Information The variants shown are described using the transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-6-4G>C r.spl? p.? Parent #2 g.66511531G>C - PRKAR1A_000016 - - - - DNA SEQ-NG-I 1 CRC, ENC - F Syros - Greek no - 1 Despoina Kalfakakou
./. - c.-6-4G>C r.spl? p.? Parent #2 g.66511531G>C - PRKAR1A_000016 - - - - DNA SEQ-NG-I 1 - - F Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.60C>G r.(=) p.(=) Parent #2 g.66511600C>G - PRKAR1A_000028 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.98A>G r.(?) p.(Asp33Gly) Parent #2 g.66511638A>G - PRKAR1A_000015 - - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
./. - c.156A>G r.(=) p.(=) Parent #2 g.66511696A>G - PRKAR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos Mikonos Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa, PANCA - F Neochori, Laconia Gytheio, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Laconia Gytheio, Laconia Greek no - 2 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 ColPol - F Kefalonia Amaliada Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Romanian no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Sotirianika, Messenia Pigadia, Messenia Greek no - 2 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Erythres, Attica Region Region Patra Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini Zacharo, Elis Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Gytheio Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria Bulgaria / Northern Greece Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Dafnos, Phocis Dimitra, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Nikolaos, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Pili, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Italy Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.177+30T>G r.(=) p.(=) Parent #2 g.66511747T>G - PRKAR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
./. - c.178-15C>T r.(=) p.(=) Parent #2 g.66518882C>T - PRKAR1A_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Dafni, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.204G>A r.(=) p.(=) Parent #2 g.66518923G>A - PRKAR1A_000026 rs74863634 - - - DNA SEQ-NG-I 1 BrCa, MNGM - F Lasithi Plateau - Greek no - 1 Despoina Kalfakakou
./. - c.204G>A r.(=) p.(=) Parent #2 g.66518923G>A - PRKAR1A_000026 rs74863634 - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.221G>A r.(?) p.(Arg74His) Parent #2 g.66518940G>A - PRKAR1A_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Volos Farsala Greek no - 1 Despoina Kalfakakou
./. - c.221G>A r.(?) p.(Arg74His) Parent #2 g.66518940G>A - PRKAR1A_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion Kythnos Greek no - 1 Despoina Kalfakakou
./. - c.309G>A r.(=) p.(=) Parent #2 g.66519028G>A - PRKAR1A_000029 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.440+14C>A r.(=) p.(=) Parent #2 g.66519971C>A - PRKAR1A_000018 - - - - DNA SEQ-NG-I 1 CRC, TRC - F Nikisiani, Kavala Kleitoria, Kalavryta Greek no - 1 Despoina Kalfakakou
./. - c.440+14C>A r.(=) p.(=) Parent #2 g.66519971C>A - PRKAR1A_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Kavasida, Elis Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.440+14C>A r.(=) p.(=) Parent #2 g.66519971C>A - PRKAR1A_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Rodia, Pineia - Greek no - 1 Despoina Kalfakakou
./. - c.440+14C>A r.(=) p.(=) Parent #2 g.66519971C>A - PRKAR1A_000018 - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Amaliada, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.440+14C>A r.(=) p.(=) Parent #2 g.66519971C>A - PRKAR1A_000018 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Izmir Athens Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Agiovlastika, Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 - - M Kourtaki, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa, Pella - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Crete Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 PrCa - M Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 F, Schw - F Polistafilo, Preveza Preveza Greek no - 1 Despoina Kalfakakou
./. - c.441-45G>A r.(=) p.(=) Parent #2 g.66520112G>A - PRKAR1A_000001 rs28730841 - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.503-38A>G r.(=) p.(=) Parent #2 g.66521015A>G - PRKAR1A_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Perigiali, Corinth Kavala Greek no - 3 Despoina Kalfakakou
./. - c.503-31A>G r.(=) p.(=) Parent #2 g.66521022A>G - PRKAR1A_000019 - - - - DNA SEQ-NG-I 1 CRC - F Kozani Ilia Greek no - 2 Despoina Kalfakakou
./. - c.503-19_503-18insT r.(=) p.(=) Parent #2 g.66521034_66521035insT - PRKAR1A_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.503-19_503-18insT r.(=) p.(=) Parent #2 g.66521034_66521035insT - PRKAR1A_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Patra Livadeia Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Elaionas, Boeotia Avlonas, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 Epend, OC - M Mitilini Athens Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Parent #2 g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.549+32T>A r.(=) p.(=) Both (homozygous) g.66521131T>A - PRKAR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Xylokastro Greek no - 1 Despoina Kalfakakou
./. - c.584G>A r.(?) p.(Gly195Glu) Parent #2 g.66521929G>A - PRKAR1A_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Andravida, Elis Leros Greek no - 1 Despoina Kalfakakou
./. - c.585G>A r.(=) p.(=) Parent #2 g.66521930G>A - PRKAR1A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Andravida, Elis Leros Greek no - 1 Despoina Kalfakakou
./. - c.606A>G r.(=) p.(=) Parent #2 g.66521951A>G - PRKAR1A_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.678C>T r.(=) p.(=) Parent #2 g.66522023C>T - PRKAR1A_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Skopelos - Greek no - 1 Despoina Kalfakakou
./. - c.678C>T r.(=) p.(=) Parent #2 g.66522023C>T - PRKAR1A_000021 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Istiaia, Evia Tsapournia, Evia Greek no - 4 Despoina Kalfakakou
./. - c.708+29A>G r.(=) p.(=) Parent #2 g.66522082A>G - PRKAR1A_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Arta Athens Greek no - 1 Despoina Kalfakakou
./. - c.708+29A>G r.(=) p.(=) Parent #2 g.66522082A>G - PRKAR1A_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.708+29A>G r.(=) p.(=) Parent #2 g.66522082A>G - PRKAR1A_000023 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.769+43C>A r.(=) p.(=) Parent #2 g.66524084C>A - PRKAR1A_000014 - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
./. - c.770-40C>T r.(=) p.(=) Parent #2 g.66524971C>T - PRKAR1A_000031 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Drama & Pontus Evros Greek no - 1 Despoina Kalfakakou
./. - c.770-14T>C r.(=) p.(=) Parent #2 g.66524997T>C - PRKAR1A_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
./. - c.822G>A r.(=) p.(=) Parent #2 g.66525063G>A - PRKAR1A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.877T>C r.(?) p.(Phe293Leu) Parent #2 g.66525118T>C - PRKAR1A_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.879C>T r.(=) p.(=) Parent #2 g.66525120C>T - PRKAR1A_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.974-37T>G r.(=) p.(=) Parent #2 g.66526381T>G - PRKAR1A_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.1042G>A r.(?) p.(Val348Ile) Parent #2 g.66526486G>A - PRKAR1A_000020 - - - - DNA SEQ-NG-I 1 BrCa, CHL, ColPol - F Constantinople Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.*11C>T r.(=) p.(=) Parent #2 g.66526601C>T - PRKAR1A_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.*11C>T r.(=) p.(=) Parent #2 g.66526601C>T - PRKAR1A_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.*14T>G r.(=) p.(=) Parent #2 g.66526604T>G - PRKAR1A_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.*14T>G r.(=) p.(=) Parent #2 g.66526604T>G - PRKAR1A_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.*14T>G r.(=) p.(=) Parent #2 g.66526604T>G - PRKAR1A_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Sifnos - Greek no - 1 Despoina Kalfakakou
./. - c.*39T>G r.(=) p.(=) Parent #2 g.66526629T>G - PRKAR1A_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Thessaly Greek no - 1 Despoina Kalfakakou
./. - c.*39T>G r.(=) p.(=) Parent #2 g.66526629T>G - PRKAR1A_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.*39T>G r.(=) p.(=) Parent #2 g.66526629T>G - PRKAR1A_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Metsovo Zitsa, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.*39T>G r.(=) p.(=) Parent #2 g.66526629T>G - PRKAR1A_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
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