View all transcript variants in gene BMPR2

Information The variants shown are described using the NM_001204.6 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.218C>G p.(Ser73*) stop_gained - 2/12 - r.(?) - subst g.203329673C>G - 5.500 - BMPR2_000015 rs137852742 - ; clinvar; 10973254 - - LOVD
+/+ c.354T>G p.(Cys118Trp) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) subst g.203332348T>G - 1.250 - BMPR2_000014 rs137852743 - ; clinvar; 10973254 - - LOVD
+/+ c.367T>A p.(Cys123Ser) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) subst g.203332361T>A - 5.380 - BMPR2_000010 rs137852750 - ; clinvar; 11115378 - - LOVD
+/+ c.367T>C p.(Cys123Arg) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) subst g.203332361T>C - 5.380 - BMPR2_000011 rs137852750 - ; clinvar; 11115378 - - LOVD
+/+ c.507C>A p.(Cys169*) stop_gained - 4/12 - r.(?) - subst g.203378530C>A - 3.870 - BMPR2_000012 rs137852747 - ; clinvar; 10903931 - - LOVD
+/+ c.631C>T p.(Arg211*) stop_gained - 6/12 - r.(?) - subst g.203383554C>T - 6.050 - BMPR2_000013 rs137852753 - ; clinvar; 11015450;11115378;12358323 - - LOVD
+/+ c.994C>T p.(Arg332*) stop_gained - 8/12 - r.(?) - subst g.203395543C>T - 4.810 - BMPR2_000001 rs137852751 - ; clinvar; 11115378 - - LOVD
+/+ c.1040G>A p.(Cys347Tyr) missense_variant - 8/12 probably_damaging(0.997) r.(?) deleterious(0) subst g.203395589G>A - 5.700 - BMPR2_000002 rs137852744 - ; clinvar; 10973254 - - LOVD
+/+ c.1454A>G p.(Asp485Gly) missense_variant - 11/12 probably_damaging(0.998) r.(?) deleterious(0) subst g.203417479A>G - 5.520 - BMPR2_000003 rs137852745 - ; clinvar; 10973254 - - LOVD
+/+ c.1471C>T p.(Arg491Trp) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0) subst g.203417496C>T - 4.580 - BMPR2_000004 rs137852746 - ; clinvar; 10903931;3291115 - - LOVD
+/+ c.1472G>A p.(Arg491Gln) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0) subst g.203417497G>A - 5.520 - BMPR2_000005 rs137852749 - ; clinvar; 3291115;10903931 - - LOVD
+/+ c.2617C>T p.(Arg873*) stop_gained - 12/13 - r.(?) - subst g.203421005C>T - 6.170 - BMPR2_000006 rs137852748 - ; clinvar; 10903931 - - LOVD
+/+ c.2695C>T p.(Arg899*) stop_gained - 12/13 - r.(?) - subst g.203421083C>T - 5.300 - BMPR2_000007 rs137852741 - ; clinvar; 10973254 - - LOVD
+/+ c.2696G>A p.(Arg899Gln) missense_variant - 12/13 - r.(?) - subst g.203421084G>A - 6.080 - BMPR2_000008 rs137852752 - ; clinvar; 15965979 - - LOVD
+/+ c.2696G>C p.(Arg899Pro) missense_variant - 12/13 - r.(?) - subst g.203421084G>C - 6.080 - BMPR2_000009 rs137852752 - ; clinvar; 15965979 - - LOVD
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