Full data view for gene BMPR1A

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

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Geographic Origin (for founder variants)     

Is Greek Founder     

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+/+ 1 c.(?) r.(?) p.(?) Parent #2 g.(?_88516426)_(88516683_88598727) - BMPR1A_000049 - Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BMPR1A exon 1 deletion - - DNA MLPA 0 Polyposis - F Euboea - Greek no - 1 Despoina Kalfakakou
+/+ 1 c.(?) r.(?) p.(?) Parent #2 g.(?_88516426)_(88516683_88598727) - BMPR1A_000049 - Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BMPR1A exon 1 deletion - - DNA MLPA 1 Polyposis - F Euboea - Greek no - 2 Despoina Kalfakakou
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