Full data view for gene DARS2

Information The variants shown are described using the NM_018122.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Netherlands - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Belgium - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Belgium - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Germany;Kazakhstan - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Germany;Kazakhstan - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Netherlands - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no - Europe, East - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no United States - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 sib of LBSL37 - no Canada - - - - - 2 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 sib of LBSL36 - no Canada - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation;Germany - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Turkey - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Italy - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Italy - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Italy - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Germany - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Germany - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Brazil - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Russian Federation - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.spl p.(Arg76Serfs*6) Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 - PubMed: Scheper 2007 - - Unknown yes - - - - DNA SEQ ? - LBSL - PubMed: Scheper 2007 - - no Germany - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Norway - - - - - 1 Johan den Dunnen
+/? 2i c.228-21_228-20delinsC r.228_294del p.Arg76Serfs*6 Parent #1 - pathogenic g.173797450_173797451delinsC g.173828312_173828313delinsC 228-20_-21delTTinsC - DARS2_000004 nonsense-mediated mRNA decay PubMed: Scheper 2007 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ ? - LBSL - PubMed: Scheper 2007 - - no Norway - - - - - 1 Johan den Dunnen
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