Full data view for gene BMPR1A

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
Legend  

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.56C>T r.(?) p.(Ser19Phe) Parent #2 g.88635831C>T - BMPR1A_000044 - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti - Greek no - 1 Despoina Kalfakakou
./. - c.90T>C r.(=) p.(=) Parent #2 g.88649841T>C - BMPR1A_000041 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.93T>C r.(=) p.(=) Parent #2 g.88649844T>C - BMPR1A_000040 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.114C>G r.(?) p.(Asp38Glu) Parent #2 g.88649865C>G - BMPR1A_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.118G>A r.(?) p.(Asp40Asn) Parent #2 g.88649869G>A - BMPR1A_000038 - - - - DNA SEQ-NG-I 1 OVCA - F Amarynthos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.148T>C r.(=) p.(=) Parent #2 g.88649899T>C - BMPR1A_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.183C>T r.(=) p.(=) Parent #2 g.88649934C>T - BMPR1A_000035 - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
./. - c.198C>T r.(=) p.(=) Parent #2 g.88649949C>T - BMPR1A_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.231-9C>T r.(=) p.(=) Parent #2 g.88651875C>T - BMPR1A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.357C>T r.(=) p.(=) Parent #2 g.88659574C>T - BMPR1A_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 2 Despoina Kalfakakou
./. - c.372T>C r.(=) p.(=) Parent #2 g.88659589T>C - BMPR1A_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Krioneri, Karditsa - Greek no - 4 Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) Parent #2 g.88659659G>A - BMPR1A_000011 - - - - DNA SEQ-NG-I 1 BrCa, GaPol - F Petrino, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 CRC - M Athens Drama Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Phocis Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Karia, Lamia Ormenio, Orestias Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Karia, Lamia Ormenio, Orestias Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Myrsini, Laconia Finiki, Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Karystos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.431-30A>G r.(=) p.(=) Parent #2 g.88659754A>G - BMPR1A_000039 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.499A>G r.(?) p.(Met167Val) Parent #2 g.88659852A>G - BMPR1A_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Kavala Greek no - 1 Despoina Kalfakakou
./. - c.675+10A>T r.(=) p.(=) Parent #2 g.88672151A>T - BMPR1A_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Lamia Agrafa Greek no - 1 Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) Parent #2 g.88672188T>C - BMPR1A_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Sitomena, AetoliaAcarnania - Greek no - 1 Despoina Kalfakakou
./. - c.676-34C>T r.(=) p.(=) Parent #2 g.88676857C>T - BMPR1A_000045 - - - - DNA SEQ-NG-I 1 OVCA - F Trikala & Athens Thera & Athens Greek no - 1 Despoina Kalfakakou
./. - c.676-24A>G r.(=) p.(=) Parent #2 g.88676867A>G - BMPR1A_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
./. - c.676-6A>C r.(=) p.(=) Parent #2 g.88676885A>C - BMPR1A_000026 - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) Parent #2 g.88676992G>A - BMPR1A_000012 rs56108371 - - - DNA SEQ-NG-I 1 OVCA - F Armenia - Greek no - 3 Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) Parent #2 g.88676992G>A - BMPR1A_000012 rs56108371 - - - DNA SEQ-NG-I 1 - - F Agrinio Patras Greek no - 1 Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) Parent #2 g.88678886A>G - BMPR1A_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Serres Greek no - 1 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Krapsi, Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) Parent #2 g.88679035A>G - BMPR1A_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.987A>C r.(?) p.(Arg329Ser) Parent #2 g.88679047A>C - BMPR1A_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1000T>A r.(?) p.(Leu334Met) Parent #2 g.88679060T>A - BMPR1A_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.1001T>C r.(?) p.(Leu334Ser) Parent #2 g.88679061T>C - BMPR1A_000036 - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.1038C>A r.(?) p.(His346Gln) Parent #2 g.88679098C>A - BMPR1A_000043 - - - - DNA SEQ-NG-I 1 OVCA - F Lasithi Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.1160T>G r.(?) p.(Phe387Cys) Parent #2 g.88679220T>G - BMPR1A_000017 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Florina Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Messolonghi Greek no - 1 Despoina Kalfakakou
./. - c.1215A>C r.(?) p.(Lys405Asn) Parent #2 g.88681325A>C - BMPR1A_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.1230C>T r.(=) p.(=) Parent #2 g.88681340C>T - BMPR1A_000014 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Kymi, Euboea - Greek no - 3 Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) Parent #2 g.88681353G>A - BMPR1A_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) Parent #2 g.88681353G>A - BMPR1A_000006 - - - - DNA SEQ-NG-I 1 Pheo - F Asia Minor Pontus Greek no - 1 Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) Parent #2 g.88681353G>A - BMPR1A_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Asia Minor & Euboea Greek no - 1 Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) Parent #2 g.88681353G>A - BMPR1A_000006 - - - - DNA SEQ-NG-I 1 OVCA - F VolosĀ  - Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Elis - Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa, CRC, ENC, PNCA2 - F Limnes, Argos Chiliomodi, Corinth Greek no - 3 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Duka, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Patra Livadeia Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Metomorfosi, Messinia Maniaki, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) Parent #2 g.88681384A>T - BMPR1A_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Arcadia Asea, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.1278C>T r.(=) p.(=) Parent #2 g.88681388C>T - BMPR1A_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Elis Greek no - 1 Despoina Kalfakakou
./. - c.1299C>T r.(=) p.(=) Parent #2 g.88681409C>T - BMPR1A_000042 - - - - DNA SEQ-NG-I 1 OVCA - F Xanthi - Greek no - 1 Despoina Kalfakakou
./. - c.1327C>T r.(?) p.(Arg443Cys) Parent #2 g.88681437C>T - BMPR1A_000032 rs35619497 - - - DNA SEQ-NG-I 1 ENC - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.1343-26_1343-25insC r.(=) p.(=) Parent #2 g.88683107_88683108insC - BMPR1A_000009 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1343-24C>A r.(=) p.(=) Parent #2 g.88683109C>A - BMPR1A_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno - Greek no - 1 Despoina Kalfakakou
./. - c.1343-22A>C r.(=) p.(=) Parent #2 g.88683111A>C - BMPR1A_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Sycurium, Larisa Kastoria Greek no - 1 Despoina Kalfakakou
./. - c.1388G>T r.(?) p.(Ser463Ile) Parent #2 g.88683178G>T - BMPR1A_000016 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1412G>A r.(?) p.(Arg471His) Parent #2 g.88683202G>A - BMPR1A_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis - Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Aigio - Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 ColPol - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 CRC - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 - - F Alexandria, Egypt Serres Greek no - 1 Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) Parent #2 g.88683209T>G - BMPR1A_000005 - - - - DNA SEQ-NG-I 1 CMM3 - F Serres Lamia Greek no - 1 Despoina Kalfakakou
./. - c.1458G>A r.(=) p.(=) Parent #2 g.88683248G>A - BMPR1A_000037 - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1473+18C>T r.(=) p.(=) Parent #2 g.88683281C>T - BMPR1A_000018 - - - - DNA SEQ-NG-I 1 Polyposis - M Arta Corfu Greek no - 1 Despoina Kalfakakou
./. - c.1473+34C>T r.(=) p.(=) Parent #2 g.88683297C>T - BMPR1A_000046 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Nikolaos, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1473+35G>A r.(=) p.(=) Parent #2 g.88683298G>A - BMPR1A_000033 - - - - DNA SEQ-NG-I 1 SRCM - M Arta - Greek no - 1 Despoina Kalfakakou
./. - c.1528T>C r.(?) p.(Ser510Pro) Parent #2 g.88683405T>C - BMPR1A_000031 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
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