Transcript #00021045

Transcript name transforming growth factor, beta 3
Gene name TGFB3 (transforming growth factor, beta 3)
Chromosome 14
Transcript - NCBI ID NM_003239.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003230.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
-?/. - c.-4909C>G likely benign r.(?) p.(=) -
-/- 1 c.-38del - r.(?) p.(=) -
+/+ 1 c.-30G>A - r.(?) p.(=) -
-/- 1 c.39C>T - r.(?) p.(=) -
-/. - c.39C>T benign r.(?) p.(=) -
?/. - c.82A>C VUS r.(?) p.(Thr28Pro) -
-/- 1 c.88T>C - r.(?) p.(=) -
-?/. - c.96C>T likely benign r.(?) p.(=) -
-/- 1 c.170C>T - r.(?) p.(Pro57Leu) -
+/. - c.170dup pathogenic r.(?) p.(Glu58*) -
?/. - c.171del VUS r.(?) p.(Glu58Serfs*4) -
-/- 1 c.179C>T - r.(?) p.(Thr60Met) -
-?/. - c.179C>T likely benign r.(?) p.(Thr60Met) -
?/? 1 c.188C>A - r.(?) p.(Thr63Asn) -
?/. - c.196C>T VUS r.(?) p.(Pro66Ser) -
+/. - c.232del pathogenic r.(?) p.(Glu78Serfs*33) -
?/. - c.275C>A VUS r.(?) p.(Thr92Asn) -
-?/. - c.288C>T likely benign r.(?) p.(=) -
-?/. - c.288C>T likely benign r.(?) p.(=) -
-?/. - c.288C>T likely benign r.(?) p.(=) -
?/. - c.293C>T VUS r.(?) p.(Ser98Leu) -
-?/. - c.324C>T likely benign r.(?) p.(=) -
-?/. - c.324C>T likely benign r.(?) p.(=) -
-?/. - c.352+16C>T likely benign r.(=) p.(=) -
-?/. - c.353-5C>T likely benign r.spl? p.? -
-?/. - c.354C>T likely benign r.(?) p.(=) -
?/. - c.389A>G VUS r.(?) p.(Lys130Arg) -
?/. - c.412T>G VUS r.(?) p.(Ser138Ala) -
?/. - c.412T>G VUS r.(?) p.(Ser138Ala) -
-?/. - c.471C>T likely benign r.(?) p.(=) -
-/- 2i c.516+31C>T - r.(?) p.(=) -
-/- 2i c.517-16T>C - r.(?) p.(=) -
-/. - c.517-16T>C benign r.(=) p.(=) -
-/- 2i c.517-6C>G - r.(?) p.(=) -
-?/. - c.558C>T likely benign r.(?) p.(=) -
?/. - c.559G>A VUS r.(?) p.(Gly187Ser) -
-?/. - c.591C>T likely benign r.(?) p.(=) -
-/- 3i c.646+14_646+15insT - r.(?) p.(=) -
-/- 3i c.647-98A>G - r.(?) p.(=) -
-/- 3i c.647-81del - r.(?) p.(=) -
-/- 3i c.647-80del - r.(?) p.(=) -
-/- 3i c.647-12C>G - r.(?) p.(=) -
?/. - c.683C>T VUS r.(?) p.(Pro228Leu) -
-?/. - c.744C>A likely benign r.(?) p.(=) -
-/. - c.744C>A benign r.(?) p.(=) -
-?/. - c.744C>A likely benign r.(?) p.(=) -
+/. - c.754+2T>C pathogenic r.spl? p.? -
-/- 4i c.754+43_754+44insG - r.(?) p.(=) -
-/- 4i c.754+47T>G - r.(?) p.(=) -
-/- 4i c.754+74C>A - r.(?) p.(=) -
-/- 4i c.755-38T>C - r.(?) p.(=) -
-?/. - c.757G>A likely benign r.(?) p.(Val253Met) -
-?/. - c.764A>G likely benign r.(?) p.(Asn255Ser) -
-?/. - c.797G>A likely benign r.(?) p.(Arg266His) -
?/. - c.797G>A VUS r.(?) p.(Arg266His) -
?/. - c.813G>C VUS r.(?) p.(Lys271Asn) -
-?/. - c.813G>C likely benign r.(?) p.(Lys271Asn) -
?/. - c.873G>A VUS r.(?) p.(=) -
+/. - c.898C>T ACMG: 5 r.(?) p.(Arg300Trp) -
+/. - c.898C>T pathogenic r.(?) p.(Arg300Trp) -
+/. - c.899G>A pathogenic r.(?) p.(Arg300Gln) -
+/. - c.899G>A pathogenic r.(?) p.(Arg300Gln) -
-/- 5 c.912C>G - r.(?) p.(=) -
?/. - c.958C>T VUS r.(?) p.(Leu320Phe) -
+/. - c.976C>T pathogenic r.(?) p.(Gln326*) -
+?/. - c.1075A>C likely pathogenic r.(?) p.(Ser359Arg) -
+?/. - c.1081-2A>T likely pathogenic r.spl? p.? -
-/- 7 c.1122C>G - r.(?) p.(=) -
-/. - c.1122C>G benign r.(?) p.(=) -
?/. - c.1175T>C VUS r.(?) p.(Val392Ala) -
-?/. - c.1185C>T likely benign r.(?) p.(=) -
?/. - c.1222T>G VUS r.(?) p.(Ser408Ala) -
-?/. - c.1230A>G likely benign r.(?) p.(=) -
-/- 7 c.*8C>T - r.(?) p.(=) -
-/- 7 c.*9G>A - r.(?) p.(=) -
+/+ 7 c.*495C>T - r.(?) p.(=) -
?/. - c.*495C>T VUS r.(=) p.(=) -
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