Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.218C>G p.(Ser73*) stop_gained - 2/12 - r.(?) - Unknown subst g.203329673C>G - 5.500 - BMPR2_000015 MSCV_0002821 rs137852742 - ; clinvar; 10973254 - - - - - - - - - - - - - - - - - - -
+/+ c.354T>G p.(Cys118Trp) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.203332348T>G - 1.250 - BMPR2_000014 MSCV_0002822 rs137852743 - ; clinvar; 10973254 - - - - - - - - - - - - - - - - - - -
+/+ c.367T>A p.(Cys123Ser) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.203332361T>A - 5.380 - BMPR2_000010 MSCV_0002823 rs137852750 - ; clinvar; 11115378 - - - - - - - - - - - - - - - - - - -
+/+ c.367T>C p.(Cys123Arg) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.203332361T>C - 5.380 - BMPR2_000011 MSCV_0002824 rs137852750 - ; clinvar; 11115378 - - - - - - - - - - - - - - - - - - -
+/+ c.507C>A p.(Cys169*) stop_gained - 4/12 - r.(?) - Unknown subst g.203378530C>A - 3.870 - BMPR2_000012 MSCV_0002825 rs137852747 - ; clinvar; 10903931 - - - - - - - - - - - - - - - - - - -
+/+ c.631C>T p.(Arg211*) stop_gained - 6/12 - r.(?) - Unknown subst g.203383554C>T - 6.050 - BMPR2_000013 MSCV_0002826 rs137852753 - ; clinvar; 11015450;11115378;12358323 - - - - - - - - - - - - - - - - - - -
+/+ c.994C>T p.(Arg332*) stop_gained - 8/12 - r.(?) - Unknown subst g.203395543C>T - 4.810 - BMPR2_000001 MSCV_0002827 rs137852751 - ; clinvar; 11115378 - - - - - - - - - - - - - - - - - - -
+/+ c.1040G>A p.(Cys347Tyr) missense_variant - 8/12 probably_damaging(0.997) r.(?) deleterious(0) Unknown subst g.203395589G>A - 5.700 - BMPR2_000002 MSCV_0002828 rs137852744 - ; clinvar; 10973254 - - - - - - - - - - - - - - - - - - -
+/+ c.1454A>G p.(Asp485Gly) missense_variant - 11/12 probably_damaging(0.998) r.(?) deleterious(0) Unknown subst g.203417479A>G - 5.520 - BMPR2_000003 MSCV_0002829 rs137852745 - ; clinvar; 10973254 - - - - - - - - - - - - - - - - - - -
+/+ c.1471C>T p.(Arg491Trp) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.203417496C>T - 4.580 - BMPR2_000004 MSCV_0002830 rs137852746 - ; clinvar; 10903931;3291115 - - - - - - - - - - - - - - - - - - -
+/+ c.1472G>A p.(Arg491Gln) missense_variant - 11/12 probably_damaging(1) r.(?) deleterious(0) Unknown subst g.203417497G>A - 5.520 - BMPR2_000005 MSCV_0002831 rs137852749 - ; clinvar; 3291115;10903931 - - - - - - - - - - - - - - - - - - -
+/+ c.2617C>T p.(Arg873*) stop_gained - 12/13 - r.(?) - Unknown subst g.203421005C>T - 6.170 - BMPR2_000006 MSCV_0002832 rs137852748 - ; clinvar; 10903931 - - - - - - - - - - - - - - - - - - -
+/+ c.2695C>T p.(Arg899*) stop_gained - 12/13 - r.(?) - Unknown subst g.203421083C>T - 5.300 - BMPR2_000007 MSCV_0002833 rs137852741 - ; clinvar; 10973254 - - - - - - - - - - - - - - - - - - -
+/+ c.2696G>A p.(Arg899Gln) missense_variant - 12/13 - r.(?) - Unknown subst g.203421084G>A - 6.080 - BMPR2_000008 MSCV_0002834 rs137852752 - ; clinvar; 15965979 - - - - - - - - - - - - - - - - - - -
+/+ c.2696G>C p.(Arg899Pro) missense_variant - 12/13 - r.(?) - Unknown subst g.203421084G>C - 6.080 - BMPR2_000009 MSCV_0002835 rs137852752 - ; clinvar; 15965979 - - - - - - - - - - - - - - - - - - -
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