Unique variants in the TKT gene

Information The variants shown are described using the NM_001064.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

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     
?/. 1 - c.339+3A>C r.spl? p.? - VUS g.53275145T>G g.53241129T>G TKT(NM_001064.3):c.339+3A>C (p.?) - TKT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.541A>G r.(?) p.(Ile181Val) - likely pathogenic g.53269087T>C g.53235071T>C - - TKT_000004 - PubMed: Kaasinen 2014 - rs17052920 Germline - - - - - Johan den Dunnen
?/. 1 - c.614G>A r.(?) p.(Arg205Gln) - VUS g.53269014C>T g.53234998C>T TKT(NM_001064.3):c.614G>A (p.(Arg205Gln)) - TKT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.848A>T r.(?) p.(Lys283Met) - VUS g.53265467T>A g.53231451T>A TKT(NM_001064.3):c.848A>T (p.(Lys283Met)) - TKT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1219G>A r.(?) p.(Glu407Lys) - VUS g.53263341C>T g.53229325C>T TKT(NM_001064.3):c.1219G>A (p.(Glu407Lys)) - TKT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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