All variants in the TBR1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 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
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