Unique variants in gene TBR1

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

14 entries on 1 page. Showing entries 1 - 14.
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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.677T>A likely pathogenic r.(?) p.(Ile226Asn) g.162273598T>A - - - TBR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.678C>G VUS r.(?) p.(Ile226Met) g.162273599C>G - TBR1(NM_006593.3):c.678C>G (p.I226M) - TBR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.703C>A likely pathogenic r.(?) p.(Pro235Thr) g.162274197C>A - TBR1(NM_006593.3):c.703C>A (p.P235T) - TBR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.746A>T VUS r.(?) p.(His249Leu) g.162274240A>T - TBR1(NM_006593.3):c.746A>T (p.H249L) - TBR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.986C>T likely pathogenic r.(?) p.(Ser329Phe) g.162275419C>T - - - TBR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1105_1113del VUS r.(?) p.(Val369_Ala371del) g.162275538_162275546del - TBR1(NM_006593.3):c.1105_1113delGTCACCGCC (p.V369_A371del) - TBR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 2 c.1118A>G likely pathogenic r.(?) p.(Gln373Arg) g.162275551A>G g.161419040A>G - - TBR1_000001 VKGL data sharing initiative Nederland PubMed: Gilissen 2014 - - De novo, CLASSIFICATION record - - - - - Marianne Vos (LOVD-team), VKGL-NL
+?/. 1 - c.1128+4A>T likely pathogenic r.spl? p.? g.162275565A>T - - - TBR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1178A>G VUS r.(?) p.(Asp393Gly) g.162276756A>G - TBR1(NM_006593.3):c.1178A>G (p.D393G) - TBR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1190+1G>A likely pathogenic r.spl? p.? g.162276769G>A - - - TBR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1351_1356dup VUS r.(?) p.(Ala451_Gly452dup) g.162280040_162280045dup - TBR1(NM_006593.3):c.1351_1356dupGCGGGC (p.A451_G452dup) - TBR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 6 c.1588_1594dup likely pathogenic r.(?) p.(Thr532Argfs*144) g.162280277_162280283dup g.161423766_161423772dup g.162280263_162280264insGCTGCAG; 1574_1575insGCTGCAG - TBR1_000002 - PubMed: Gilissen 2014 - - De novo, Unknown - - - - - Marianne Vos (LOVD-team), IMGAG
-?/. 1 - c.1618G>C likely benign r.(?) p.(Ala540Pro) g.162280307G>C - TBR1(NM_006593.2):c.1618G>C (p.(Ala540Pro)) - TBR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1815G>C VUS r.(?) p.(Lys605Asn) g.162280504G>C - - - TBR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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