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     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? _1_1i c.(?_-548)_(-268+1_-267-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88516677_88598621)del - del promotor_first non-coding exon - BMPR1A_000108 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA MLPA - screening JPS proband 3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_1i c.(?_-548)_(-268+1_-267-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88516677_88598621)del - del promotor_first non-coding exon - BMPR1A_000108 ACMG PVS1, PS2 Journal: Barros 2009 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Barros 2009 - - - (Portugal) (European) - 0 - - 1 Karl Heinimann
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