All transcript variants in gene TCF3

Information The variants shown are described using the NM_003200.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.22G>T r.(?) p.(Ala8Ser) - likely benign g.1650226C>A g.1650227C>A TCF3(NM_003200.5):c.22G>T (p.A8S) - TCF3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.80C>T r.(?) p.(Pro27Leu) - VUS g.1646419G>A - TCF3(NM_003200.5):c.80C>T (p.P27L) - TCF3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.105C>T r.(?) p.(Gly35=) - likely benign g.1646394G>A g.1646395G>A TCF3(NM_003200.4):c.105C>T (p.G35=) - TCF3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.111C>T r.(?) p.(Pro37=) - likely benign g.1646388G>A g.1646389G>A TCF3(NM_003200.5):c.111C>T (p.P37=) - TCF3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.214A>T r.(?) p.(Ser72Cys) - likely benign g.1632336T>A - TCF3(NM_003200.5):c.214A>T (p.S72C) - TCF3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.299-1G>A r.spl? p.? - likely pathogenic g.1627426C>T g.1627427C>T - - TCF3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.302A>G r.(?) p.(Lys101Arg) - likely benign g.1627422T>C g.1627423T>C TCF3(NM_001136139.2):c.302A>G (p.(Lys101Arg)) - TCF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.315G>A r.(?) p.(Arg105=) - likely benign g.1627409C>T - TCF3(NM_003200.5):c.315G>A (p.R105=) - TCF3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.342C>T r.(?) p.(Asp114=) - likely benign g.1627382G>A g.1627383G>A TCF3(NM_003200.5):c.342C>T (p.D114=) - TCF3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.359T>C r.(?) p.(Leu120Pro) - benign g.1627365A>G g.1627366A>G TCF3(NM_003200.4):c.359T>C (p.L120P) - TCF3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.499+6C>T r.(=) p.(=) - likely benign g.1625569G>A g.1625570G>A TCF3(NM_003200.5):c.499+6C>T - TCF3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.537T>A r.(?) p.(Gly179=) - likely benign g.1623962A>T g.1623963A>T TCF3(NM_003200.5):c.537T>A (p.G179=) - TCF3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.549+12G>A r.(=) p.(=) - likely benign g.1623938C>T - TCF3(NM_003200.4):c.549+12G>A - TCF3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.555C>G r.(?) p.(Tyr185Ter) - VUS g.1622409G>C g.1622410G>C TCF3(NM_003200.5):c.555C>G (p.Y185*) - TCF3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.592A>G r.(?) p.(Thr198Ala) - benign g.1622372T>C g.1622373T>C TCF3(NM_003200.4):c.592A>G (p.T198A) - TCF3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.737C>T r.(?) p.(Pro246Leu) - VUS g.1622138G>A g.1622139G>A TCF3(NM_003200.5):c.737C>T (p.P246L) - TCF3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.750G>A r.(?) p.(Pro250=) - likely benign g.1622125C>T g.1622126C>T TCF3(NM_003200.4):c.750G>A (p.P250=) - TCF3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.882_884del r.(?) p.(Ser295del) - likely benign g.1621911_1621913del g.1621912_1621914del TCF3(NM_003200.4):c.882_884delCTC (p.S295del), TCF3(NM_003200.5):c.882_884delCTC (p.S295del) - TCF3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.882_884del r.(?) p.(Ser295del) - likely benign g.1621911_1621913del g.1621912_1621914del TCF3(NM_003200.4):c.882_884delCTC (p.S295del), TCF3(NM_003200.5):c.882_884delCTC (p.S295del) - TCF3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.882_884del r.(?) p.(Ser295del) - likely benign g.1621911_1621913del g.1621912_1621914del TCF3(NM_003200.4):c.882_884delCTC (p.S295del), TCF3(NM_003200.5):c.882_884delCTC (p.S295del) - TCF3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.887C>A r.(?) p.(Ala296Asp) - likely benign g.1621905G>T g.1621906G>T TCF3(NM_003200.4):c.887C>A (p.A296D) - TCF3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.888C>T r.(?) p.(Ala296=) - likely benign g.1621904G>A g.1621905G>A TCF3(NM_003200.4):c.888C>T (p.A296=), TCF3(NM_003200.5):c.888C>T (p.A296=) - TCF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.888C>T r.(?) p.(Ala296=) - likely benign g.1621904G>A g.1621905G>A TCF3(NM_003200.4):c.888C>T (p.A296=), TCF3(NM_003200.5):c.888C>T (p.A296=) - TCF3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.996C>T r.(?) p.(Leu332=) - likely benign g.1621150G>A - TCF3(NM_003200.5):c.996C>T (p.L332=) - TCF3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1026G>A r.(?) p.(Pro342=) - likely benign g.1621034C>T g.1621035C>T TCF3(NM_003200.5):c.1026G>A (p.P342=) - TCF3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1094-2A>G r.spl? p.? - likely pathogenic g.1619854T>C g.1619855T>C TCF3(NM_003200.5):c.1094-2A>G - TCF3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1161C>T r.(?) p.(His387=) - likely benign g.1619785G>A g.1619786G>A TCF3(NM_003200.4):c.1161C>T (p.H387=) - TCF3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1167+10T>G r.(=) p.(=) - likely benign g.1619769A>C g.1619770A>C TCF3(NM_003200.5):c.1167+10T>G - TCF3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1167+20_1167+21insGCCCCACCCC r.(=) p.(=) - likely benign g.1619762_1619763insTGGGGCGGGG g.1619763_1619764insTGGGGCGGGG TCF3(NM_003200.4):c.1167+20_1167+21insGCCCCACCCC - TCF3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1240G>A r.(?) p.(Asp414Asn) - VUS g.1619401C>T g.1619402C>T TCF3(NM_003200.5):c.1240G>A (p.D414N) - TCF3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1267G>A r.(?) p.(Gly423Arg) - VUS g.1619374C>T g.1619375C>T TCF3(NM_003200.5):c.1267G>A (p.G423R) - TCF3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1326+7G>A r.(=) p.(=) - likely benign g.1619308C>T g.1619309C>T TCF3(NM_003200.5):c.1326+7G>A - TCF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1344C>T r.(?) p.(Pro448=) - likely benign g.1619216G>A g.1619217G>A TCF3(NM_003200.5):c.1344C>T (p.P448=) - TCF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1422C>A r.(?) p.(Asp474Glu) - VUS g.1619138G>T g.1619139G>T TCF3(NM_003200.5):c.1422C>A (p.D474E) - TCF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1473G>A r.(?) p.(Thr491=) - likely benign g.1615798C>T g.1615799C>T TCF3(NM_003200.5):c.1473G>A (p.T491=) - TCF3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1479C>T r.(?) p.(Ala493=) - likely benign g.1615792G>A g.1615793G>A TCF3(NM_003200.4):c.1479C>T (p.A493=) - TCF3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1512C>T r.(?) p.(Asp504=) - likely benign g.1615759G>A g.1615760G>A TCF3(NM_003200.5):c.1512C>T (p.D504=) - TCF3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1549G>C r.(?) p.(Glu517Gln) - likely benign g.1615722C>G g.1615723C>G TCF3(NM_003200.5):c.1549G>C (p.E517Q) - TCF3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1549G>C r.(?) p.(Glu517Gln) - likely benign g.1615722C>G - TCF3(NM_003200.5):c.1549G>C (p.E517Q) - TCF3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1555A>G r.(?) p.(Lys519Glu) - likely benign g.1615716T>C g.1615717T>C TCF3(NM_003200.5):c.1555A>G (p.K519E) - TCF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1683G>C r.(?) p.(Arg561=) - likely benign g.1615423C>G g.1615424C>G TCF3(NM_003200.5):c.1683G>C (p.R561=) - TCF3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1713G>A r.(?) p.(Glu571=) - likely benign g.1615393C>T g.1615394C>T TCF3(NM_003200.5):c.1713G>A (p.E571=) - TCF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1731A>G r.(?) p.(Gln577=) - likely benign g.1615375T>C g.1615376T>C TCF3(NM_003200.5):c.1731A>G (p.Q577=) - TCF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1823-529C>T r.(=) p.(=) - VUS g.1612377G>A - TCF3(NM_001351779.1):c.1642C>T (p.R548C) - TCF3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1823-528G>T r.(=) p.(=) - VUS g.1612376C>A - TCF3(NM_001351779.1):c.1643G>T (p.R548L) - TCF3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1823-492G>A r.(=) p.(=) - VUS g.1612340C>T g.1612341C>T TCF3(NM_001136139.4):c.1679G>A (p.R560Q) - TCF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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