Full data view for gene TGFBR2

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Type     

DNA change (genomic) (hg19)     

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Genetic origin     

Template     

Technique     

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Disease     

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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.1117C>T r.(?) p.(Arg373Cys) - Unknown Substitution g.30713717C>T - TGFBR2_000120 - Unknown DNA SEQ-NG - LDS2 - - - - - Phenotype of patient is TAAD (aortic dissection type A). Could you please add this disease to your list? Since effect of variant is not confirmed to be pathogenic, it is not possible at the moment to otherwise confirm a diagnosis of LDS type 2 in this patient 1 Alessandra Maugeri
./. 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
+?/. 7 c.1565G>A r.(?) p.(Arg522Gln) - Paternal (confirmed) Substitution g.30729969G>A - TGFBR2_000121 - Germline (inherited) DNA SEQ-NG - LDS2 - - - - - - 1 Alessandra Maugeri
./. 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.1630G>T r.(?) p.(Glu544*) - Unknown Substitution g.30732942G>T - TGFBR2_000122 - Unknown DNA SEQ-NG - LDS2 - - - - - - 1 Alessandra Maugeri
./. 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
+/. 8 c.1669C>T r.(?) p.(Gln557*) - Unknown Substitution g.30732981C>T - TGFBR2_000025 - Unknown DNA SEQ-NG - LDS2 - - - - - - 1 Alessandra Maugeri
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