All transcript variants in 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     

Protein     

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     

Owner     
+/+ 1 c.(?) r.(?) p.(?) 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 - - Despoina Kalfakakou
+/+ 1 c.(?) r.(?) p.(?) 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 - - Despoina Kalfakakou
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