Unique variants in the TCTEX1D2 gene

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

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Reported     

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     
?/. 2 - c.318-2187_318-2184del r.(=) p.(=) - VUS g.196025124_196025127del g.196298253_196298256del - - TCTEX1D2_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.318-1779A>G r.(=) p.(=) - VUS g.196024719T>C g.196297848T>C - - TCTEX1D2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.328C>T r.(?) p.(Arg110Cys) - VUS g.196022930G>A g.196296059G>A TCTEX1D2(NM_152773.4):c.328C>T (p.R110C) - TCTEX1D2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query