Transcript #00018860

Transcript name SH3 domain and tetratricopeptide repeats 2
Gene name SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
Chromosome 5
Transcript - NCBI ID NM_024577.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078853.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

162 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-110C>T likely benign r.(?) p.(=)
+/. 1 c.28del - r.(?) p.(Glu10Serfs*4)
+?/. - c.43del likely pathogenic r.(?) p.(Arg15Glyfs*19)
?/. - c.52G>A VUS r.(?) p.(Gly18Ser)
?/. - c.79A>G VUS r.(?) p.(Thr27Ala)
-?/. - c.79A>G likely benign r.(?) p.(Thr27Ala)
?/. - c.152-64T>C VUS r.(=) p.(=)
+?/. - c.152-7_152-4del likely pathogenic r.(?) p.(?)
?/. - c.164C>T VUS r.(?) p.(Ser55Phe)
+/. - c.211C>T - r.(?) p.(Gln71*)
+/. 3 c.217_227delinsCCAGTAA - r.(?) p.(Ala73Profs*55)
?/. - c.233_239del VUS r.(?) p.(Leu78Hisfs*49)
+?/. - c.279G>A likely pathogenic r.(?) p.(=)
+?/. - c.279G>A likely pathogenic r.(?) p.(=)
-?/. - c.385+4_385+8del likely benign r.spl? p.?
-/. - c.477T>A benign r.(?) p.(=)
?/. - c.505T>C VUS r.(?) p.(Tyr169His)
?/. - c.505T>C - r.(?) p.(Tyr169His)
?/. - c.505T>C ACMG: 3 r.(?) p.Tyr169His
+/. 5 c.505T>C - r.(?) p.(Tyr169His)
?/. - c.505T>C VUS r.(?) p.(Tyr169His)
?/. - c.505T>C VUS r.(?) p.(Tyr169His)
-/. - c.512G>A benign r.(?) p.(Gly171Glu)
?/. - c.517C>A VUS r.(?) p.(Leu173Met)
+/. - c.530-2A>G pathogenic r.spl? p.?
+/. 5i c.530-2A>T pathogenic r.spl p.?
+/. - c.543C>A pathogenic r.(?) p.(Cys181*)
+/. 6 c.596C>T - r.(?) p.(Thr199Ile)
-/. - c.645C>T benign r.(=) p.(=)
-/. - c.645C>T benign r.(?) p.(=)
+/. 6 c.680G>A - r.(?) p.(Arg227Gln)
?/. - c.689T>C VUS r.(?) p.(Val230Ala)
+?/. - c.819dup likely pathogenic r.(?) p.(Lys274*)
?/. - c.894C>T VUS r.(=) p.(=)
+/. - c.920G>A pathogenic r.(?) p.(Trp307*)
+/. 8 c.920G>A - r.(?) p.(Trp307*)
?/. - c.925A>G VUS r.(?) p.(Ile309Val)
-?/. - c.1002-12G>T likely benign r.(=) p.(=)
?/. - c.1096A>G VUS r.(?) p.(Thr366Ala)
+/. - c.1178-1G>A pathogenic r.spl? p.?
-/. - c.1194T>C benign r.(?) p.(=)
-/. - c.1194T>C benign r.(?) p.(=)
+/. - c.1255del likely pathogenic r.(?) p.(Ser419Profs*38)
+/. 11 c.1285G>T - r.(?) p.(Glu429*)
?/. - c.1298C>T VUS r.(?) p.(Ser433Leu)
-?/. - c.1299G>C likely benign r.(?) p.(=)
-/. - c.1350G>A benign r.(?) p.(=)
?/. - c.1387G>A VUS r.(?) p.(Glu463Lys)
-/. - c.1402G>T benign r.(?) p.(Ala468Ser)
-/. - c.1402G>T benign r.(?) p.(Ala468Ser)
-?/. - c.1403C>T likely benign r.(?) p.(Ala468Val)
-?/. - c.1403C>T likely benign r.(?) p.(Ala468Val)
+?/. - c.1407del likely pathogenic r.(?) p.(Ile470Tyrfs*54)
-?/. - c.1443C>T likely benign r.(?) p.(=)
?/. - c.1573T>C VUS r.(?) p.(Trp525Arg)
?/. - c.1580A>C ACMG: 3 r.(?) p.(His527Pro)
+?/? 11 c.1585C>T - r.(?) p.(Arg529Cys)
+/. - c.1586G>A pathogenic r.(?) p.(Arg529His)
-/. - c.1587T>G benign r.(?) p.(=)
-/. - c.1587T>G benign r.(?) p.(=)
-/. - c.1587T>G benign r.(?) p.(=)
+/. - c.1679del likely pathogenic r.(?) p.(Gly560Glufs*21)
+/. - c.1747_1748del pathogenic r.(?) p.(Arg583Alafs*4)
+/. 11 c.1747_1748del - r.(?) p.(Arg583Alafs*4)
-?/. - c.1767C>T likely benign r.(?) p.(=)
?/. - c.1862G>A - r.(?) p.(Arg621His)
+?/. - c.1865A>C likely pathogenic r.(?) p.(Gln622Pro)
+?/. - c.1894_1897delinsAAA ACMG: 4 r.(?) p.(Glu632Lysfs*13)
+/. 11 c.1894_1897delinsAAA - r.(?) p.(Glu632Lysfs*13)
+/. 11 c.1906_1922delinsAGGGC - r.(?) p.(Cys636_Arg641delinsArgAla)
?/. - c.1922G>A - r.(?) p.(Arg641His)
+/. - c.1969G>A pathogenic r.(?) p.(Glu657Lys)
+/. 11 c.1969G>A - r.(?) p.(Glu657Lys)
+/. - c.1972C>T pathogenic r.(?) p.(Arg658Cys)
+?/. - c.1972C>T - r.(?) p.(Arg658Cys)
+/. - c.1972C>T pathogenic r.(?) p.(Arg658Cys)
+/. - c.1972C>T pathogenic r.(?) p.(Arg658Cys)
+/. 11 c.1972C>T - r.(?) p.(Arg658Cys)
+/. - c.1982T>C pathogenic r.(?) p.(Leu661Pro)
+/. 11 c.1982T>C - r.(?) p.(Leu661Pro)
+/. 11 c.1985T>C - r.(?) p.(Leu662Pro)
-?/. - c.2033T>C likely benign r.(?) p.(Phe678Ser)
+/. - c.2126G>A pathogenic r.(?) p.(Trp709*)
+/. 11 c.2211_2213del - r.(?) p.(Cys737*)
-/. - c.2235T>G benign r.(?) p.(=)
+/. - c.2266C>T likely pathogenic r.(?) p.(Gln756*)
?/. - c.2339T>C ACMG: 3 r.(?) p.Leu780Pro
+/. - c.2339T>C pathogenic r.(?) p.(Leu780Pro)
+/. 11 c.2491_2492del - r.(?) p.(Leu832Hisfs*8)
?/. - c.2527G>A VUS r.(?) p.(Gly843Arg)
?/. - c.2582G>A VUS r.(?) p.(Arg861Gln)
+/. 11 c.2633C>A - r.(?) p.(Ala878Asp)
+/. - c.2642A>G - r.(?) p.(Asn881Ser)
+?/. - c.2642A>G likely pathogenic r.(?) p.(Asn881Ser)
+/. 11 c.2642A>G - r.(?) p.(Asn881Ser)
+?/. - c.2642A>T likely pathogenic r.(?) p.(Asn881Ile)
+/. - c.2680C>T pathogenic r.(?) p.(Pro894Ser)
+/. - c.2710C>T - r.(?) p.(Arg904*)
+/. - c.2710C>T pathogenic r.(?) p.(Arg904*)
+/. 11 c.2710C>T - r.(?) p.(Arg904*)
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