Full data view for gene BMPR1A

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

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

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Remarks     

Type of test     

Disease     

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Reference     

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Panel size     

Owner     
?/? 5UTR c.-14A>G p.(?) Hetero ATM r.(=) - Unknown g.86876005A>G - BMPR1A_000006 - - DNA SEQ-NG 09-dec-2020 Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian; Spanish - - Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
+/+ 6-10 exon 6-10 deletion p.(?) Hetero N/A r.(?) - Unknown exon 6-10 deletion - BMPR1A_000004 - - DNA CNV, SEQ-NG 28-nov-2017 Hospital Italiano de Buenos Aires Other genes tested in this panel are not informed Multigenetic panel - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 3 c.4C>A p.(Pro2Thr) Hetero no r.(?) - Unknown g.86876022C>A - BMPR1A_000002 - - DNA CNV, SEQ-NG 28-mar-2018 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Argentinian - - Breast cancer, Colon cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 3 c.4C>A p.(Pro2Thr) Hetero no r.(?) - Unknown g.86876022C>A - BMPR1A_000002 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 7 c.446G>T p.(Gly149Val) Hetero no r.(=) - Unknown g.86900042G>T - BMPR1A_000005 - - DNA SEQ-NG 03-dec-2020 Genda Panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian; Basque - - Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 7 c.446G>T p.(Gly149Val) Hetero no r.(=) - Unknown g.86900042G>T - BMPR1A_000005 - - DNA SEQ-NG 03-dec-2020 Genda Panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian; Basque - - Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 8 c.536_538del p.(Tyr179del) Hetero no r.(?) RECLASSIFIED MARCH 2018 Unknown g.86912245_86912247del - BMPR1A_000001 - - DNA CNV 1-oct-2017 Genesia - Progenitest, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel - Spanish-Italian - - - 1 Vanesa Lotersztein-Genesia/Progenitest
-?/- 10 c.1140C>T p.(=) Hetero no r.(=) - Unknown g.86919443C>T - BMPR1A_000003 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
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