All transcript variants in 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)     

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     
./. - c.258+2T>C r.spl? p.? - - 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 - Marjolijn JL Ligtenberg
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.258+2T>C r.spl? p.? - pathogenic g.66459197A>G - SBDS(NM_016038.2):c.258+2T>C (, p.?) - SBDS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.258+2T>C r.spl? p.? - - g.66459197A>G g.66994210A>G - - SBDS_000002 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
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