Full data view for gene SMAD2

Information The variants shown are described using the NM_005901.5 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Remarks     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Template     

Technique     

Remarks     

Disease     

Reference     

Gender     

Ethnic origin     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ 8 c.954T>A r.(?) p.Asn318Lys - Unknown Substitution g.45374889A>T - chr1_000044 - Unknown DNA SEQ - LDS - F - - - - 1 Giada Tortora
+/+ 8 c.954T>A r.(?) p.Asn318Lys - Unknown Substitution g.45374889A>T - chr1_000044 - Unknown DNA SEQ - LDS - F - - - - 1 Giada Tortora
+/+ 9 c.1082A>C r.(?) p.Asn361Thr - Unknown Substitution g.45372087T>G - chr1_000045 - Unknown DNA SEQ - LDS - M - - - - 1 Giada Tortora
+/+ 10 c.1163A>G r.(?) p.Gln388Arg - Unknown Substitution g.45371828T>C - chr1_000042 - Unknown DNA SEQ - LDS Micha et al (2015) F - - - - 1 Giada Tortora
+/+ 10 c.1163A>G r.(?) p.Gln388Arg - Unknown Substitution g.45371828T>C - chr1_000042 - Unknown DNA SEQ - LDS Micha et al (2015) F - - - - 1 Giada Tortora
+/+ 10 c.1190C>A r.(?) p.Ser397Tyr - Unknown Substitution g.45371801G>T - chr1_000043 - Unknown DNA SEQ - LDS - M - - - - 1 Giada Tortora
+/+ 11 c.1346T>C r.(?) p.Leu449Ser - Unknown Substitution g.45368256A>G - chr1_000040 - Unknown DNA SEQ - LDS Micha et al (2015) F - - - - 1 Giada Tortora
+/+ 11 c.1369G>A r.(?) p.Gly457Arg - Unknown Substitution g.45368233C>T - chr1_000041 - Unknown DNA SEQ - LDS Micha et al (2015) F - - - - 1 Giada Tortora
+/+ 11 c.1400C>T r.(?) p.Ser467Leu - Unknown Substitution g.45368202G>A - chr1_000046 - Unknown DNA SEQ - LDS - M - - - - 1 Giada Tortora
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