Unique variants in gene DLL4

Information The variants shown are described using the NM_019074.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

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     
-/. 1 1_11 c.-1_*1= r.(=) p.(=) - benign g.41221866_41230233= - - - DLL4_000000 1 more item PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - - - Johan den Dunnen
+?/. 1 - c.245C>A r.(?) p.(Pro82Gln) - likely pathogenic g.41222223C>A g.40930025C>A - - DLL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.361G>C r.(?) p.(Ala121Pro) - pathogenic g.41222847G>C g.40930649G>C - - DLL4_000007 - PubMed: Meester 2015, Journal: Meester 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 4 c.556C>T r.(?) p.(Arg186Cys) - pathogenic g.41223862C>T g.40931664C>T - - DLL4_000005 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown, Germline yes - - - - Johan den Dunnen
?/. 1 - c.571C>T r.(?) p.(Arg191Cys) - VUS g.41223877C>T g.40931679C>T DLL4(NM_019074.3):c.571C>T (p.R191C) - DLL4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 4 c.583T>C r.(?) p.(Phe195Leu) - pathogenic g.41223889T>C g.40931691T>C - - DLL4_000008 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - - - Johan den Dunnen
+/. 2 6 c.799C>A r.(?) p.(Pro267Thr) - pathogenic g.41224594C>A g.40932396C>A - - DLL4_000006 unaffected individual, possible somatic mosaic PubMed: Meester 2015, Journal: Meester 2015 - - Unknown, Germline yes - - - - Johan den Dunnen
+/. 5 8 c.1168T>C r.(?) p.(Cys390Arg) - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes, ? - - - - Johan den Dunnen
+/. 1 8 c.1169G>A r.(?) p.(Cys390Tyr) - pathogenic g.41227244G>A g.40935046G>A - - DLL4_000003 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1239C>T r.(?) p.(Asn413=) - likely benign g.41227314C>T g.40935116C>T DLL4(NM_019074.3):c.1239C>T (p.(=)) - DLL4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 9 c.1365C>G r.(?) p.(Cys455Trp) - pathogenic g.41228550C>G g.40936352C>G - - DLL4_000002 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown, Germline yes, ? - - - - Johan den Dunnen
+/. 3 9 c.1660C>T r.(=) p.(Gln554*) - pathogenic g.41228845C>T g.40936647C>T - - DLL4_000009 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - - - Johan den Dunnen
+/. 3 9 c.1672C>T r.(?) p.(Arg558*) - pathogenic g.41228857C>T g.40936659C>T - - DLL4_000001 individual has no phenotype, might be somatic mosaic PubMed: Meester 2015, Journal: Meester 2015 - - Unknown, Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1813T>A r.(?) p.(Cys605Ser) - likely benign g.41228998T>A - DLL4(NM_019074.3):c.1813T>A (p.(Cys605Ser)) - DLL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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