All variants in the TK2 gene

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

24 entries on 1 page. Showing entries 1 - 24.
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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.94C>T r.(?) p.(Arg32Trp) - benign g.66583871G>A g.66549968G>A TK2(NM_004614.5):c.94C>T (p.R32W) - TK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.124+222dup r.(=) p.(=) - VUS g.66583621dup g.66549718dup - - TK2_000005 - - - - Germline - - - - - Andreas Laner
+?/? 2 c.133C>T r.(=) p.(Gln45*) - likely pathogenic g.66582904G>A g.66549001G>A - - TK2_000001 - - - - Germline - - - - - Robert McFarland
-/. - c.156+15T>C r.(=) p.(=) - benign g.66582866A>G g.66548963A>G TK2(NM_001271934.2):c.-87+15T>C - TK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.156+904A>T r.(=) p.(=) - likely benign g.66581977T>A - TK2(NM_001271934.2):c.-86-9A>T - CKLF_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.157-12G>A r.(=) p.(=) - VUS g.66575868C>T g.66541965C>T - - TK2_000004 - - - - Germline - - - - - Andreas Laner
+?/? 3 c.173A>G r.(=) p.(Asn58Ser) - likely pathogenic g.66575840T>C g.66541937T>C - - TK2_000002 - - - - Germline - - - - - Robert McFarland
-/. - c.231+10C>T r.(=) p.(=) - benign g.66575772G>A g.66541869G>A TK2(NM_001271934.1):c.84+10C>T, TK2(NM_001271934.2):c.84+10C>T - TK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.231+10C>T r.(=) p.(=) - likely benign g.66575772G>A g.66541869G>A TK2(NM_001271934.1):c.84+10C>T, TK2(NM_001271934.2):c.84+10C>T - TK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.231+10C>T r.(=) p.(=) - likely benign g.66575772G>A - TK2(NM_001271934.1):c.84+10C>T, TK2(NM_001271934.2):c.84+10C>T - TK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.268C>T r.(?) p.(Arg90Cys) - likely pathogenic g.66570884G>A g.66536981G>A TK2(NM_001271934.2):c.121C>T (p.R41C) - TK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.278A>G r.(?) p.(Asn93Ser) - VUS g.66570874T>C g.66536971T>C TK2(NM_001271934.2):c.131A>G (p.N44S) - TK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.310C>T r.(?) p.(Arg104Cys) - likely pathogenic g.66565348G>A g.66531445G>A - - TK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.328C>T r.(?) p.(Gln110Ter) - pathogenic g.66565330G>A g.66531427G>A TK2(NM_001271934.1):c.181C>T (p.Q61*) - TK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.371C>G r.(?) p.(Pro124Arg) - VUS g.66565287G>C g.66531384G>C - - TK2_000007 PolyPhen-2: PSIC: 2,7-probably damaging - - - Germline - - - - - Andreas Laner
+/. - c.389G>A r.(?) p.(Arg130Gln) - pathogenic g.66562957C>T g.66529054C>T - - TK2_000006 - - - - Germline - - - - - Andreas Laner
+?/? 6 c.416C>T r.(=) p.(Ala139Val) - likely pathogenic g.66562930G>A g.66529027G>A - - TK2_000003 functional validation will be performed PubMed: Neveling 2013 - - Unknown ? - - - - Marcel Nelen
+/. - c.416C>T r.(?) p.(Ala139Val) - pathogenic g.66562930G>A - TK2(NM_001272050.2):c.125C>T (p.A42V), TK2(NM_004614.5):c.416C>T (p.A139V) - TK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.416C>T r.(?) p.(Ala139Val) - likely pathogenic g.66562930G>A - TK2(NM_001272050.2):c.125C>T (p.A42V), TK2(NM_004614.5):c.416C>T (p.A139V) - TK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.514A>G r.(?) p.(Met172Val) - likely benign g.66551716T>C g.66517813T>C TK2(NM_001172643.1):c.421A>G (p.(Met141Val)) - TK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.520G>C r.(?) p.(Val174Leu) - VUS g.66551710C>G - TK2(NM_004614.5):c.520G>C (p.(Val174Leu)) - TK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.694G>C r.(?) p.(Val232Leu) - VUS g.66547639C>G g.66513736C>G TK2(NM_001271934.2):c.547G>C (p.V183L) - TK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.700-13G>A r.(=) p.(=) - benign g.66545982C>T g.66512079C>T TK2(NM_001271934.2):c.553-13G>A - TK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.700-13G>A r.(=) p.(=) - benign g.66545982C>T - TK2(NM_001271934.2):c.553-13G>A - TK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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