Full data view for gene TCTEX1D2

Information The variants shown are described using the NM_152773.4 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.57G>A r.(?) p.(Glu19=) Unknown - likely benign g.196044967C>T - TCTEX1D2(NM_152773.5):c.57G>A (p.E19=) - TCTEX1D2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.317+5G>A r.spl? p.? Both (homozygous) ACMG likely pathogenic g.196033809C>T g.196306938C>T - - TCTEX1D2_000006 - - ClinVar-1921675 rs201901599 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.318-2187_318-2184del r.(=) p.(=) Unknown - VUS g.196025124_196025127del g.196298253_196298256del - - TCTEX1D2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.318-2187_318-2184del r.(=) p.(=) Unknown - VUS g.196025124_196025127del g.196298253_196298256del - - TCTEX1D2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.318-1779A>G r.(=) p.(=) Unknown - VUS g.196024719T>C g.196297848T>C - - TCTEX1D2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - VUS g.196022930G>A g.196296059G>A TCTEX1D2(NM_152773.4):c.328C>T (p.R110C), TCTEX1D2(NM_152773.5):c.328C>T (p.(Arg110Cys)) - TCTEX1D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - likely benign g.196022930G>A - TCTEX1D2(NM_152773.4):c.328C>T (p.R110C), TCTEX1D2(NM_152773.5):c.328C>T (p.(Arg110Cys)) - TCTEX1D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Asn119=) Unknown - likely benign g.196022901G>A - TCTEX1D2(NM_152773.5):c.357C>T (p.N119=) - TCTEX1D2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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