Unique variants in the BMPR1A gene

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 1 5UTR c.-14A>G p.(?) Hetero ATM r.(=) - g.86876005A>G - BMPR1A_000006 - - Silvina Sisterna-Hospital de Comunidad
+/+ 1 6-10 exon 6-10 deletion p.(?) Hetero N/A r.(?) - exon 6-10 deletion - BMPR1A_000004 - - Maria Laura Gonzalez-Hospital Italiano
-/- 2 3 c.4C>A p.(Pro2Thr) Hetero no r.(?) - g.86876022C>A - BMPR1A_000002 - - Silvina Sisterna-Hospital de Comunidad
?/? 2 7 c.446G>T p.(Gly149Val) Hetero no r.(=) - g.86900042G>T - BMPR1A_000005 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 8 c.536_538del p.(Tyr179del) Hetero no r.(?) RECLASSIFIED MARCH 2018 g.86912245_86912247del - BMPR1A_000001 - - Vanesa Lotersztein-Genesia/Progenitest
-?/- 1 10 c.1140C>T p.(=) Hetero no r.(=) - g.86919443C>T - BMPR1A_000003 - - Silvina Sisterna-Hospital de Comunidad
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