Full data view for gene BMPR1A

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

16 entries on 1 page. Showing entries 1 - 16.
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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     
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - - - DNA PCR, SEQ - test JPS S5 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - - - - 5 Global Variome, with Curator vacancy
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP12-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 5 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP12-2 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP12-3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP12-4 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - DNA PCR, SEQ - screening JPS JP12-5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - - - DNA PCR, SEQ - test JPS S7 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - - - DNA PCR, SEQ - test JPS S9 PubMed: Howe 2001, Journal: Howe 2001 f M - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - - - DNA PCR, SEQ - test JPS S11 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - - - DNA PCR, SEQ - test JPS S14 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP19-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP19-2 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP19-3 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP19-4 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - - - DNA PCR, SEQ - - JPS JP19-5 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - - - - 1 Karl Heinimann
?/+ 10 c.961del r.(?) p.(Leu321*) Unknown ACMG VUS g.88679021del g.86919264del 961delC - BMPR1A_000029 ACMG PVS1, PM2, PM4, PP3 PubMed: Sayed 2002, Journal: Sayed 2002 - - Germline - - - - - DNA PCR - screening JPS JP14 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - - - - 1 Karl Heinimann
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