Full data view for gene BMPR1A

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

14 entries on 1 page. Showing entries 1 - 14.
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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_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 219 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 222 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 202 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 203 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 213 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 302 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 320 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 330 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 340 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 350 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 901 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 920 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 906 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 915 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
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