All variants in the SECISBP2 gene

Information The variants shown are described using the NM_024077.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.37-12A>G r.(=) p.(=) - benign g.91934555A>G g.89319640A>G SECISBP2(NM_001282690.1):c.-168-12A>G - CKS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.367C>G r.(?) p.(Gln123Glu) - likely benign g.91940526C>G g.89325611C>G SECISBP2(NM_024077.4):c.367C>G (p.(Gln123Glu)) - SECISBP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.422C>T r.(?) p.(Ala141Val) - likely benign g.91940581C>T g.89325666C>T SECISBP2(NM_001282690.1):c.218C>T (p.A73V) - SECISBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.457del r.(?) p.(Thr153Argfs*20) - pathogenic g.91940836del - SECISBP2(NM_001282690.1):c.253delA (p.T85Rfs*20) - SECISBP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.964A>G r.(?) p.(Met322Val) - likely benign g.91949520A>G g.89334605A>G SECISBP2(NM_024077.4):c.964A>G (p.(Met322Val)) - SECISBP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1010_1011insACC r.(?) p.(Val337_Ser338insPro) - VUS g.91949566_91949567insACC g.89334651_89334652insACC SECISBP2(NM_001282690.1):c.806_807insACC (p.V269_S270insP) - SECISBP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1020A>T r.(?) p.(Pro340=) - benign g.91949576A>T g.89334661A>T SECISBP2(NM_001282690.1):c.816A>T (p.P272=) - SECISBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1153A>G r.(?) p.(Lys385Glu) - likely benign g.91953436A>G g.89338521A>G SECISBP2(NM_024077.4):c.1153A>G (p.(Lys385Glu)) - SECISBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1282C>G r.(?) p.(Gln428Glu) - benign g.91954848C>G g.89339933C>G SECISBP2(NM_001282690.1):c.1078C>G (p.Q360E) - SECISBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1475G>T r.(?) p.(Gly492Val) - likely benign g.91961836G>T g.89346921G>T SECISBP2(NM_001282690.1):c.1271G>T (p.G424V) - SECISBP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1486C>T r.(?) p.(Arg496Cys) - likely benign g.91961847C>T g.89346932C>T SECISBP2(NM_024077.4):c.1486C>T (p.(Arg496Cys)) - SECISBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1738+7A>C r.(=) p.(=) - benign g.91963136A>C g.89348221A>C SECISBP2(NM_001282690.1):c.1534+7A>C - SECISBP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1893-18G>A r.(=) p.(=) - benign g.91965529G>A g.89350614G>A SECISBP2(NM_001282690.1):c.1689-18G>A - SECISBP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1923G>A r.(?) p.(Val641=) - benign g.91965577G>A - SECISBP2(NM_001282690.1):c.1719G>A (p.V573=) - SECISBP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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