Unique variants in gene TBX2

Information The variants shown are described using the NM_005994.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.411del VUS r.(?) p.(Phe138Serfs*17) g.59479060del - TBX2(NM_005994.3):c.411del (p.(Phe138fs)) - TBX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.464T>C VUS r.(?) p.(Met155Thr) g.59479113T>C - TBX2(NM_005994.3):c.464T>C (p.(Met155Thr)) - TBX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.664-8C>T likely benign r.(=) p.(=) g.59480414C>T - TBX2(NM_005994.3):c.664-8C>T (p.(=)) - TBX2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.986C>A VUS r.(?) p.(Pro329His) g.59482065C>A - TBX2(NM_005994.3):c.986C>A (p.P329H) - TBX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2030C>T likely benign r.(?) p.(Pro677Leu) g.59485758C>T - TBX2(NM_005994.3):c.2030C>T (p.(Pro677Leu)) - C17orf82_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*3931dup likely benign r.(?) p.(=) g.59489798dup - C17orf82(NM_203425.1):c.459_460insC (p.(Ser155GlnfsTer192)) - C17orf82_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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