All transcript variants in gene TBR1

Information The variants shown are described using the NM_006593.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.196_199del r.(?) p.(Asp66IlefsTer149) - pathogenic g.162273117_162273120del - TBR1(NM_006593.3):c.196_199delGACA (p.D66Ifs*149) - PSMD14_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.677T>A r.(?) p.(Ile226Asn) - likely pathogenic g.162273598T>A g.161417087T>A - - TBR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.678C>G r.(?) p.(Ile226Met) - VUS g.162273599C>G g.161417088C>G TBR1(NM_006593.3):c.678C>G (p.I226M) - TBR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.703C>A r.(?) p.(Pro235Thr) - likely pathogenic g.162274197C>A g.161417686C>A TBR1(NM_006593.3):c.703C>A (p.P235T) - TBR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.746A>T r.(?) p.(His249Leu) - VUS g.162274240A>T g.161417729A>T TBR1(NM_006593.3):c.746A>T (p.H249L) - TBR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.811T>C r.(?) p.(Trp271Arg) - pathogenic (dominant) g.162274305T>C g.161417794T>C - - TBR1_000016 - PubMed: Hamdan 2015 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.986C>T r.(?) p.(Ser329Phe) - likely pathogenic g.162275419C>T g.161418908C>T - - TBR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1105_1113del r.(?) p.(Val369_Ala371del) - VUS g.162275538_162275546del g.161419027_161419035del TBR1(NM_006593.3):c.1105_1113delGTCACCGCC (p.V369_A371del) - TBR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 c.1118A>G r.(?) p.(Gln373Arg) - pathogenic g.162275551A>G g.161419040A>G - - TBR1_000001 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team)
+?/. - c.1118A>G r.(?) p.(Gln373Arg) - likely pathogenic g.162275551A>G g.161419040A>G - - TBR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1128+4A>T r.spl? p.? - likely pathogenic g.162275565A>T g.161419054A>T - - TBR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1174C>T r.(?) p.(Arg392Trp) - likely pathogenic g.162276752C>T - - - TBR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1178A>G r.(?) p.(Asp393Gly) - VUS g.162276756A>G g.161420245A>G TBR1(NM_006593.3):c.1178A>G (p.D393G) - TBR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.1190+1G>A r.spl? p.? - likely pathogenic g.162276769G>A g.161420258G>A - - TBR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1351_1356dup r.(?) p.(Ala451_Gly452dup) - VUS g.162280040_162280045dup g.161423529_161423534dup TBR1(NM_006593.3):c.1351_1356dupGCGGGC (p.A451_G452dup) - TBR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 6 c.1588_1594dup r.(?) p.(Thr532Argfs*144) - pathogenic g.162280277_162280283dup g.161423766_161423772dup - - TBR1_000002 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team)
+?/. - c.1588_1594dup r.(?) p.(Thr532Argfs*144) - likely pathogenic g.162280277_162280283dup g.161423766_161423772dup g.162280263_162280264insGCTGCAG; 1574_1575insGCTGCAG - TBR1_000002 - - - - Unknown - - - 0 - IMGAG
+?/. - c.1588_1594dup r.(?) p.(Thr532ArgfsTer144) - likely pathogenic g.162280277_162280283dup - TBR1(NM_006593.3):c.1588_1594dupGGCTGCA (p.T532Rfs*144) - TBR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1618G>C r.(?) p.(Ala540Pro) - likely benign g.162280307G>C g.161423796G>C TBR1(NM_006593.2):c.1618G>C (p.(Ala540Pro)) - TBR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1815G>C r.(?) p.(Lys605Asn) - VUS g.162280504G>C g.161423993G>C - - TBR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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