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     
?/? _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - hemizygous deletion - BMPR1A_000111 ACMG PVS1 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - Germline - - - 0 - DNA MLPA - screening JPS 18 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - 1 Karl Heinimann
?/? _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - hemizygous deletion - BMPR1A_000111 ACMG PVS1 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - Germline - - - 0 - DNA MLPA - screening JPS 24 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XY,del(10)(q23.2q24.1) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline - - - 0 - DNA microscope - screening JPS 3 Journal: Dadaleh 2012 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline/De novo (untested) - - - 0 - DNA DGGE, FISH, PCRlr - screening BRRS patient 1 Journal: Dadaleh 2012 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline - - - 0 - DNA FISH, PCRlr - screening JPS patient 2 Journal: Dadaleh 2012 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - De novo - - - 0 - DNA FISH, PCRlr - screening JPS patient 3 Journal: Dadaleh 2012 - M - (France) (European) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 10q23 deletion - BMPR1A_000111 ACMG PVS1, PM2 Journal: Hiljadnikova Bajro 2013 - - Germline/De novo (untested) - - - 0 - DNA arrayCGH, microscope - screening JPS patient Journal: Hiljadnikova Bajro 2013 - M - (Macedonia) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - del(10)(q.22.3q.24.1) - BMPR1A_000111 ACMG PVS1, PM2 {DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W} - - De novo - - - 0 - DNA microscope - screening JPS patient {DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W} - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - De novo - - - 0 - DNA arraySNP, FISH, SEQ, MLPA - screening JPS case 1 Journal: Menko 2008 - M - - maroccan - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q24.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - Germline - - - 0 - DNA arraySNP, MLPA - screening JPS case 2 Journal: Menko 2008 - M - - turkish iranian - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - De novo - - - 0 - DNA arraySNP, MLPA - screening JPS case 3 Journal: Menko 2008 - F - Belgium European - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - Germline - - - 0 - DNA arraySNP, MLPA - screening JPS case 4 Journal: Menko 2008 - M - - - - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 1-?_1599del? - BMPR1A_000111 ACMG PVS1, PM2 Journal: Ngeow 2013 - - Germline - - - 0 - DNA MLPA - screening JPS 5062 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XX del(10)(q22.3q23.33)dn - BMPR1A_000111 ACMG PVS1, PM2, PS2 Journal: Salviati 2006 - - De novo - - - 0 - DNA microscope, FISH - screening JPS patient Journal: Salviati 2006 - F - (Italy) (European) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 10q23del and 1p31.3del - BMPR1A_000111 ACMG PVS1, PM2 Journal: Septer 2013 - - Germline - - - 0 - DNA microscope - screening JPS patient Journal: Septer 2013 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - del(10)(q23.2q23.33) - BMPR1A_000111 ACMG PVS1, PM2 {DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3} - - Germline/De novo (untested) - - - 0 - DNA microscope - screening ? patient {DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3} - M - (United States) african-American - 0 - - 1 Karl Heinimann
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