Transcript #00006481

Transcript name delta-like 4 (Drosophila)
Gene name DLL4 (delta-like 4 (Drosophila))
Chromosome 15
Transcript - NCBI ID NM_019074.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_061947.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. 1_11 c.-1_*1= - r.(=) p.(=)
+?/. - c.245C>A likely pathogenic r.(?) p.(Pro82Gln)
+/. 3 c.361G>C - r.(?) p.(Ala121Pro)
+/. 4 c.556C>T - r.(?) p.(Arg186Cys)
+/. 4 c.556C>T - r.(?) p.(Arg186Cys)
?/. - c.571C>T VUS r.(?) p.(Arg191Cys)
+/. 4 c.583T>C - r.(?) p.(Phe195Leu)
+/. 6 c.799C>A - r.(?) p.(Pro267Thr)
+/. 6 c.799C>A - r.(?) p.(Pro267Thr)
+/. 8 c.1168T>C - r.(?) p.(Cys390Arg)
+/. 8 c.1168T>C - r.(?) p.(Cys390Arg)
+/. 8 c.1168T>C - r.(?) p.(Cys390Arg)
+/. 8 c.1168T>C - r.(?) p.(Cys390Arg)
+/. 8 c.1168T>C - r.(?) p.(Cys390Arg)
+/. 8 c.1169G>A - r.(?) p.(Cys390Tyr)
+/. 9 c.1365C>G - r.(?) p.(Cys455Trp)
+/. 9 c.1365C>G - r.(?) p.(Cys455Trp)
+/. 9 c.1365C>G - r.(?) p.(Cys455Trp)
+/. 9 c.1660C>T - r.(=) p.(Gln554*)
+/. 9 c.1660C>T - r.(=) p.(Gln554*)
+/. 9 c.1660C>T - r.(=) p.(Gln554*)
+/. 9 c.1672C>T - r.(?) p.(Arg558*)
+/. 9 c.1672C>T - r.(?) p.(Arg558*)
+/. 9 c.1672C>T - r.(?) p.(Arg558*)
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