Full data view for TGFB2

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

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Type     

DNA change (genomic)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Template     

Technique     

Disease     

Reference     

Gender     

Ethnic origin     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ 3 c.xxx r.(?) p.Arg159* Unknown Substitution g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) M - - - - 1 Giada Tortora
+/+ 3 c.xxx r.(?) p.Arg159* Unknown Substitution g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) F - - - - 1 Giada Tortora
+/+ 6 c.xxx r.(?) p.Arg327Trp Unknown Substitution g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) F - - - - 1 Giada Tortora
+/+ 6 c.xxx r.(?) p.Arg327Trp Unknown Substitution g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) M - - - - 1 Giada Tortora
+/+ 6 c.xxx r.(?) p.Arg327Gln Unknown Substitution g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) M - - - - 1 Giada Tortora
+/+ 7 c.xxx r.(?) p.Gly376Glufs*17 Unknown Other/Complex g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Renard et al (2013) M - - - - 1 Giada Tortora
+/+ 0 whole gene deletion r.(?) p.xxx Unknown Other/Complex g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 0 whole gene deletion r.(?) p.xxx Unknown Other/Complex g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 0 whole gene deletion r.(?) p.xxx Unknown Other/Complex g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 Fontana et al (2014) - - - - - 1 Giada Tortora
+/+ 0 whole gene deletion chr1:215713272-218899968 r.(?) p.xxx Unknown Other/Complex g.xxx - chr1_000015 - Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.839-1G>A r.(?) p.Gly280Aspfs*41 Unknown Substitution g.218609311G>A - chr1_000013 - Unknown DNA SEQ LDS4 Ritelli et al (2014) F - - - - 1 Giada Tortora
+/+ 6 c.839-1G>A r.(?) p.Gly280Aspfs*41 Unknown Substitution g.218609311G>A - chr1_000013 - Unknown DNA SEQ LDS4 Ritelli et al (2014) F - - - - 1 Giada Tortora
+/+ 1 c.236A>T r.(?) p.(Gln79Leu) Unknown Substitution g.218520279A>T - TGFB2_000010 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 1 c.236A>T r.(?) p.(Gln79Leu) Unknown Substitution g.218520279A>T - TGFB2_000010 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 1 c.244G>T r.(?) p.(Ala82Ser) Unknown Substitution g.218520287G>T - TGFB2_000012 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 1 c.274G>T r.(?) p.(Glu92*) Unknown Substitution g.218520317G>T - TGFB2_000006 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 1 c.274G>T r.(?) p.(Glu92*) Unknown Substitution g.218520317G>T - TGFB2_000006 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 1 c.294_308delCTACGCCAAGGAGGT r.(?) p.(Ala100_Tyr104del) Unknown Deletion g.218520337_218520351delCTACGCCAAGGAGGT - TGFB2_000018 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 1 c.297C>A r.(?) p.(Tyr99*) Unknown Substitution g.218520340C>A - TGFB2_000019 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 1 c.304G>T r.(?) p.(Glu102*) Unknown Substitution g.218520347G>T - TGFB2_000021 giada.tortora Unknown DNA SEQ LDS4 Boileau et al (2011) M - - - - 1 Giada Tortora
+/+ 1 c.305_307delAGG r.(?) p.(Glu102del) Unknown Deletion g.218520348_218520350delAGG - TGFB2_000015 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 3 c.475C>T r.(?) p.(Arg159*) Unknown Substitution g.218578555C>T - TGFB2_000001 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
./. 3 c.475C>T r.(?) p.(Arg159*) Unknown Substitution g.218578555C>T - TGFB2_000001 - Unknown DNA SEQ LDS4 Renard et al. (2013) F - - - - 1 Giada Tortora
+/+ 3 c.475C>T r.(?) p.(Arg159*) Unknown Substitution g.218578555C>T - TGFB2_000001 - Unknown DNA SEQ LDS4 Renard et al. (2013) F - - - - 1 Giada Tortora
+/+ 3 c.518_519insT r.(?) p.(Lys174Glufs*18) Unknown Insertion g.218578598_218578599insT - TGFB2_000003 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 3 c.577C>T r.(?) p.(Arg193Trp) Unknown Substitution g.218578657C>T - TGFB2_000014 giada.tortora Unknown DNA SEQ LDS4 Campens et al (2015) - - - - - 1 Giada Tortora
+/+ 4 c.673G>T r.(?) p.(Glu225*) Unknown Substitution g.218607502G>T - TGFB2_000011 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 4 c.687C>A r.(?) p.(Phe229Leu) Unknown Substitution g.218607516C>A - TGFB2_000020 giada.tortora Unknown DNA SEQ LDS4 Boileau et al (2011) M - - - - 1 Giada Tortora
+/+ 6 c.873_888dup r.(?) p.Asn297* Unknown Insertion g.218609346_218609361dup - chr1_000024 - Unknown DNA SEQ LDS4 Boileau et al (2011) M - - - - 1 Giada Tortora
+/+ 6 c.979C>T r.(?) p.(Arg327Trp) Unknown Substitution g.218609452C>T - TGFB2_000016 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 - - - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.980G>A r.(?) p.(Arg327Gln) Unknown Substitution g.218609453G>A - TGFB2_000008 giada.tortora Unknown DNA SEQ LDS4 Campens et al (2015) - - - - - 1 Giada Tortora
+/+ 6 c.988C>T r.(?) p.(Arg330Cys) Unknown Substitution g.218609461C>T - TGFB2_000005 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.988C>T r.(?) p.(Arg330Cys) Unknown Substitution g.218609461C>T - TGFB2_000005 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 6 c.988C>T r.(?) p.(Arg330Cys) Unknown Substitution g.218609461C>T - TGFB2_000005 giada.tortora Unknown DNA SEQ LDS4 Campens et al (2015) - - - - - 1 Giada Tortora
+/+ 6 c.988C>T r.(?) p.(Arg330Cys) Unknown Substitution g.218609461C>T - TGFB2_000005 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 6 c.1000delG r.(?) p.(Ala334Argfs*25) Unknown Deletion g.218609473delG - TGFB2_000007 giada.tortora Unknown DNA SEQ LDS4 - - - - - - 1 Giada Tortora
+/+ 7 c.1021_1025delTACAA r.(?) p.Tyr341Cysfs*25 Unknown Deletion g.218610689_218610693delTACAA - chr1_000021 - Unknown DNA SEQ LDS4 Boileau et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1042C>T r.(?) p.(Arg348Cys) Unknown Substitution g.218610710C>T - TGFB2_000002 giada.tortora Unknown DNA SEQ LDS4 Gago-Diaz et al (2014) M - - - - 1 Giada Tortora
+/+ 7 c.1042C>T r.(?) p.(Arg348Cys) Unknown Substitution g.218610710C>T - TGFB2_000002 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+?/. 6 c.1042C>T r.(?) p.(Arg348Cys) Maternal (inferred) Substitution g.218610710C>T - TGFB2_000002 - Germline (inherited) DNA ? LDS4 - M Caucasian - - - 1 Raya Al Maskari
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 7 c.1097C>A r.(?) p.(Pro366His) Unknown Substitution g.218610765C>A - TGFB2_000009 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) F - - - - 1 Giada Tortora
+/+ 7 c.1106_1110delACAAT r.(?) p.(Tyr369Cysfs*26) Unknown Deletion g.218610774_218610778delACAAT - TGFB2_000017 giada.tortora Unknown DNA SEQ LDS4 Lindsay et al (2011) M - - - - 1 Giada Tortora
+/+ 7 c.1165dupA r.(?) p.(Ser389Lysfs*8) Unknown Insertion g.218610833dupA - TGFB2_000022 giada.tortora Unknown DNA SEQ LDS4 Leutermann et al (2014) M - - - - 1 Giada Tortora
+/+ 7 c.1170+1G>A r.spl? p.? Unknown Substitution g.218610839G>A - TGFB2_000013 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
+/+ 7 c.1170+1G>A r.spl? p.? Unknown Substitution g.218610839G>A - TGFB2_000013 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 7 c.1170+1G>A r.spl? p.? Unknown Substitution g.218610839G>A - TGFB2_000013 giada.tortora Unknown DNA SEQ LDS4 - M - - - - 1 Giada Tortora
+/+ 8 c.1234G>C r.(?) p.(Asp412His) Unknown Substitution g.218614609G>C - TGFB2_000004 giada.tortora Unknown DNA SEQ LDS4 - F - - - - 1 Giada Tortora
Legend