Full data view for gene BMPR1A

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

11 entries on 1 page. Showing entries 1 - 11.
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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_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat2 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 10 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat3 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat5 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat7 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat9 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat11 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat19 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat21 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat22 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat30 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA, PCRlr - - HMPS2 1 Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
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