Full data view for gene BMPR1A

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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

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Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Both (homozygous) g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.4C>A r.(?) p.(Pro2Thr) Parent #2 g.88635779C>A - BMPR1A_000051 rs3182217 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
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