Full data view for gene TGFBR2

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Template     

Technique     

Disease     

Reference     

Gender     

Ethnic origin     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ 2 c.118G>A r.(?) p.(Asp40Asn) Unknown Substitution g.30664714G>A - TGFBR2_000098 - Unknown DNA SEQ LDS2 Bee et al (2012) F - - - - 1 Giada Tortora
+/+ 2 c.166C>A r.(?) p.(His56Asn) Unknown Substitution g.30664762C>A - TGFBR2_000097 - Unknown DNA SEQ LDS2 Bee et al (2012) M Jewish Ashkenazi - - - 1 Giada Tortora
./. 5 c.905A>G r.(?) p.(Lys302Arg) Unknown Substitution g.30713505A>G - TGFBR2_000117 - Unknown DNA SEQ LDS2 Luo at al. (2016) M - 50y Unexplained gastrointestinal hemorrhage 5 days post surgery Patient number 259. Family history of sudden death in his father before 40y 1 Giada Tortora
./. 5 c.1142G>C r.(?) p.(Arg381Pro) Unknown Substitution g.30713742G>C - TGFBR2_000047 - De novo DNA SEQ LDS2 Uike et al (2013) M Asian (Japan) - - - 1 Giada Tortora
./. 4 c.1142G>C r.(?) p.(Arg381Pro) Paternal (confirmed) Substitution g.30713742G>C - TGFBR2_000047 - Germline (inherited) DNA SEQ LDS2 Luo at al. (2016) M - - - Patient number 257 1 Giada Tortora
./. 5 c.1214T>G r.(?) p.(Leu405Arg) Unknown Substitution g.30713814T>G - TGFBR2_000115 - De novo DNA SEQ LDS2 Luo at al. (2016) F - - - Patient number 22 1 Giada Tortora
./. 5 c.1268T>C r.(?) p.(Phe423Ser) Unknown Substitution g.30713868T>C - TGFBR2_000113 - Unknown DNA SEQ LDS2 De Potter et al. (2016) F - - - - 1 Giada Tortora
+/+ 5 c.1270G>C r.(?) p.(Gly424Arg) Unknown Substitution g.30713870G>C - TGFBR2_000028 - Unknown DNA SEQ LDS2 Mehta et al(2014) F - - - - 1 Giada Tortora
./. 8 c.1546_1557del r.(?) p.(Val516_Asp519del) Unknown Deletion g.30729950_30729961del - TGFBR2_000109 - De novo DNA SEQ LDS2 van Dijk et al. (2015) M - - - patient 2 1 Giada Tortora
./. 8 c.1613T>C r.(?) p.(Val538Ala) Unknown Substitution g.30732925T>C - TGFBR2_000116 - De novo DNA SEQ LDS2 Luo at al. (2016) F - - - Patient number 153 1 Giada Tortora
./. 8 c.1639G>C r.(?) p.(Asp547His) Unknown Substitution g.30732951G>C - TGFBR2_000108 - De novo DNA SEQ LDS2 van Dijk et al. (2015) M - - - patient 1 1 Giada Tortora
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