Full data view for gene BMPR1A

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

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dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

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Geographic origin     

Geographic origin     

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Panel size     

Owner     
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.430+25G>A r.(=) p.(=) Parent #2 g.88659672G>A - BMPR1A_000002 rs200416589 - Germline - - - - 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 rs200416589 - Germline - - - - DNA SEQ-NG-I 1 OVCA, PANCA, PNCA2 - F Volos - Greek no - 2 Despoina Kalfakakou
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