All transcript variants in gene SBDS

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

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.127G>T likely benign r.(?) p.(Val43Leu) g.66460278C>A - SBDS(NM_016038.2):c.127G>T (p.V43L) - SBDS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.141C>T benign r.(?) p.(=) g.66459316G>A - SBDS(NM_016038.2):c.141C>T (p.L47=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.141C>T benign r.(?) p.(=) g.66459316G>A - SBDS(NM_016038.2):c.141C>T (p.L47=) - SBDS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.183T>C pathogenic r.(?) p.(=) g.66459274A>G - SBDS(NM_016038.2):c.183T>C (p.S61=) - SBDS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*) g.66459273_66459274delinsAG - SBDS(NM_016038.2):c.183_184delTAinsCT (p.K62*) - SBDS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62Ter)) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62Ter)) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*, p.(Lys62Ter)) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.184A>T - r.(?) p.(Lys62*) g.66459273T>A g.66994286T>A - - SBDS_000007 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - Johan den Dunnen
-/. - c.201A>G benign r.(?) p.(=) g.66459256T>C - SBDS(NM_016038.2):c.201A>G (p.K67=) - SBDS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.201A>G benign r.(?) p.(=) g.66459256T>C - SBDS(NM_016038.2):c.201A>G (p.K67=) - SBDS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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 pathogenic r.spl? p.? 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
-/. - c.258+19A>G benign r.(=) p.(=) g.66459180T>C - SBDS(NM_016038.2):c.258+19A>G - SBDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.258+54T>G benign r.(=) p.(=) g.66459145A>C - SBDS(NM_016038.2):c.258+54T>G - SBDS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.297_300del pathogenic r.(?) p.(Glu99Aspfs*21) g.66458368_66458371del - SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21) - SBDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.297_300del pathogenic r.(?) p.(Glu99Aspfs*21) g.66458368_66458371del - SBDS(NM_016038.2):c.297_300delAAGA (p.E99Dfs*21) - SBDS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.386C>G VUS r.(?) p.(Thr129Ser) g.66458277G>C - SBDS(NM_016038.2):c.386C>G (p.T129S) - SBDS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.505C>T likely pathogenic r.(?) p.(Arg169Cys) g.66456243G>A - SBDS(NM_016038.2):c.505C>T (p.R169C) - SBDS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.505C>T - r.(?) p.(Arg169Cys) g.66456243G>A g.66991256G>A - - SBDS_000013 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs113993996 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+?/. - c.523C>T likely pathogenic r.(?) p.(Arg175Trp) g.66456225G>A - SBDS(NM_016038.2):c.523C>T (p.(Arg175Trp)) - chr7_006113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.635T>C - r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G - - SBDS_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.635T>C benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.635T>C benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr) g.66453476A>G - SBDS(NM_016038.2):c.635T>C (p.I212T) - SBDS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.652C>T likely pathogenic r.(?) p.(Arg218*) g.66453459G>A - SBDS(NM_016038.2):c.652C>T (p.R218*) - SBDS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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