Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

Reference     

Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.258+2T>C - r.spl? p.? Unknown g.66459197A>G g.66994210A>G NM_016038.2(SBDS):c.258+2T>C r.spl p.? - SBDS_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - 0 - DNA SEQ-NG - - cancer, gastric Vogelaar-711A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - 0 - - 1 Marjolijn JL Ligtenberg
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C pathogenic r.spl? p.? Unknown g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258+2T>C - r.spl? p.? Paternal (confirmed) g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat95 PubMed: Pronicka 2016 PI neural tube defect F - Poland - - 0 - - 1 Johan den Dunnen
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