Unique variants in gene SBDS

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

11 entries on 1 page. Showing entries 1 - 11.
Legend  

Effect     

Reported     

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     
-?/. 1 - c.127G>T likely benign r.(?) p.(Val43Leu) g.66460278C>A - SBDS:c.127G>T (V43L) - SBDS_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.141C>T benign r.(=) p.(=) g.66459316G>A - SBDS:c.141C>T (=) - SBDS_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Utrecht
+/. 1 - c.183T>C pathogenic r.(=) p.(=) g.66459274A>G - SBDS:c.183T>C (S61=) - SBDS_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.183_184delinsCT pathogenic r.(?) p.(Lys62*) g.66459273_66459274delinsAG - SBDS:c.183_184delTAinsCT (K62*), SBDS:NM_016038.2:c.183_184delinsCT (Lys62*) - SBDS_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 2 - c.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS:c.184A>T (K62*), SBDS:NM_016038,2:c.184A>T (Lys62*) - SBDS_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 2 - c.201A>G benign r.(=) p.(=) g.66459256T>C - SBDS:c.201A>G (K67=), SBDS:NM_016038.2:c.201A>G (=) - SBDS_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., ./. 4 - c.258+2T>C pathogenic r.spl? p.? g.66459197A>G g.66994210A>G SBDS:NM_016038,2:c.258+2T>C, NM_016038.2(SBDS):c.258+2T>C r.spl p.?, SBDS:c.258+2T>C - SBDS_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Marjolijn JL Ligtenberg, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.258+19A>G benign r.(=) p.(=) g.66459180T>C - SBDS:c.258+19A>G - SBDS_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.258+54T>G benign r.(=) p.(=) g.66459145A>C - SBDS:c.258+54T>G - SBDS_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.386C>G VUS r.(?) p.(Thr129Ser) g.66458277G>C - SBDS:c.386C>G (T129S) - SBDS_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/., ?/. 11 - c.635T>C likely benign, benign r.(?) p.(Ile212Thr) g.66453476A>G g.66988489A>G SBDS:c.635T>C (I212T) - SBDS_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_Groningen, Gerard C.P. Schaafsma
Legend