Full data view for gene DLL4

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1_11 c.-1_*1= r.(=) p.(=) Unknown - benign g.41221866_41230233= - - - DLL4_000000 no variant detected in blood sample Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) M no - - - 0 - - 4 Johan den Dunnen
+?/. - c.245C>A r.(?) p.(Pro82Gln) Unknown - likely pathogenic g.41222223C>A g.40930025C>A - - DLL4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.361G>C r.(?) p.(Ala121Pro) Unknown - pathogenic g.41222847G>C g.40930649G>C - - DLL4_000007 - PubMed: Meester 2015, Journal: Meester 2015 - - De novo - - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.556C>T r.(?) p.(Arg186Cys) Unknown - pathogenic g.41223862C>T g.40931664C>T - - DLL4_000005 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. 4 c.556C>T r.(?) p.(Arg186Cys) Paternal (confirmed) - pathogenic g.41223862C>T g.40931664C>T - - DLL4_000005 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.571C>T r.(?) p.(Arg191Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.583T>C r.(?) p.(Phe195Leu) Unknown - pathogenic g.41223889T>C g.40931691T>C - - DLL4_000008 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown M - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.799C>A r.(?) p.(Pro267Thr) Unknown - pathogenic g.41224594C>A g.40932396C>A - - DLL4_000006 unaffected individual, possible somatic mosaic PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected (F), unaffected heterozygous carrier mother F - - - - 0 - - 2 Johan den Dunnen
+/. 6 c.799C>A r.(?) p.(Pro267Thr) Maternal (confirmed) - pathogenic g.41224594C>A g.40932396C>A - - DLL4_000006 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected (F), unaffected heterozygous carrier mother F - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.1168T>C r.(?) p.(Cys390Arg) Parent #1 - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - 8 Johan den Dunnen
+/. 8 c.1168T>C r.(?) p.(Cys390Arg) Parent #1 - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline ? - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.1168T>C r.(?) p.(Cys390Arg) Parent #1 - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.1168T>C r.(?) p.(Cys390Arg) Maternal (confirmed) - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - ? - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M), no clinical data F - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.1168T>C r.(?) p.(Cys390Arg) Paternal (confirmed) - pathogenic g.41227243T>C g.40935045T>C - - DLL4_000004 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.1169G>A r.(?) p.(Cys390Tyr) Unknown - pathogenic g.41227244G>A g.40935046G>A - - DLL4_000003 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1239C>T r.(?) p.(Asn413=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1365C>G r.(?) p.(Cys455Trp) Unknown - pathogenic g.41228550C>G g.40936352C>G - - DLL4_000002 - PubMed: Meester 2015, Journal: Meester 2015 - - Unknown yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - 0 - - 3 Johan den Dunnen
+/. 9 c.1365C>G r.(?) p.(Cys455Trp) Maternal (confirmed) - pathogenic g.41228550C>G g.40936352C>G - - DLL4_000002 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1365C>G r.(?) p.(Cys455Trp) Maternal (confirmed) - pathogenic g.41228550C>G g.40936352C>G - - DLL4_000002 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline ? - - 0 - DNA SEQ - - - - PubMed: Meester 2015, Journal: Meester 2015 sister, no clinical information available F - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1660C>T r.(=) p.(Gln554*) Maternal (confirmed) - pathogenic g.41228845C>T g.40936647C>T - - DLL4_000009 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1660C>T r.(=) p.(Gln554*) Maternal (confirmed) - pathogenic g.41228845C>T g.40936647C>T - - DLL4_000009 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1660C>T r.(=) p.(Gln554*) Maternal (confirmed) - pathogenic g.41228845C>T g.40936647C>T - - DLL4_000009 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1672C>T r.(?) p.(Arg558*) Unknown - pathogenic g.41228857C>T g.40936659C>T - - DLL4_000001 individual has no phenotype, might be somatic mosaic PubMed: Meester 2015, Journal: Meester 2015 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father M - - - - 0 - - 3 Johan den Dunnen
+/. 9 c.1672C>T r.(?) p.(Arg558*) Paternal (confirmed) - pathogenic g.41228857C>T g.40936659C>T - - DLL4_000001 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - 0 - - 1 Johan den Dunnen
+/. 9 c.1672C>T r.(?) p.(Arg558*) Paternal (confirmed) - pathogenic g.41228857C>T g.40936659C>T - - DLL4_000001 - PubMed: Meester 2015, Journal: Meester 2015 - - Germline yes - - 0 - DNA SEQ - - AOS - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1813T>A r.(?) p.(Cys605Ser) Unknown - likely benign g.41228998T>A - DLL4(NM_019074.3):c.1813T>A (p.(Cys605Ser)) - DLL4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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