Full data view for gene BMPR1A

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

5 entries on 1 page. Showing entries 1 - 5.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/+ _1_13_ c.0 r.0 p.0 Unknown ACMG VUS g.(?_88490000_89750000_?)del - del entire BMPR1a and PTEN genes - BMPR1A_000105 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA MLPA - screening JPS proband 4 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.0 r.0 p.0 Unknown ACMG VUS g.(?_88490000_89750000_?)del - hemizygous del BMPR1A and PTEN - BMPR1A_000105 ACMG PVS1, PM2 PubMed: Sweet 2005, Journal: Sweet 2005 - - Germline - - - 0 - DNA PCR, DGGE, PCRm, DHPLC - screening JPS Group 1/B PubMed: Sweet 2005, Journal: Sweet 2005 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 1_13_ c.0 r.0 p.0 Unknown - pathogenic (?_88450000)_(89750000_?)del - >1.2Mb del BMPR1A/PTEN - BMPR1A_000105 patient also carries 46,XX,t(2;10)(q31;p15) (?_88450000)_(89750000_?)del PubMed: Delnatte 2006 - - Germline - - - 0 - DNA FISH, PCRlr - screening JPS 16685657-Pat4 PubMed: Delnatte 2006 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.0 r.0 p.0 Unknown ACMG pathogenic g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv] - - 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) BMPR1A_000105 ACMG PVS1, PS2 PubMed: Zigman 1997 - - De novo - - - 0 - DNA microscope - screening BRRS 09352843-Pat1 PubMed: Zigman 1997 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.0 r.0 p.0 Unknown ACMG pathogenic g.(82000001_87900000)_(99300001_101900000)del - 46,XX,del(10)(q23.1q24.2) - BMPR1A_000105 ACMG PVS1, PS2 82000001_101900000 PubMed: Zigman 1997 - - De novo - - - 0 - DNA microscope - screening JPS 09352843-Pat2 PubMed: Zigman 1997 - F - (United States) (American) - 0 - - 1 Karl Heinimann
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