Full data view for gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466 and DXS304 PubMed: Beck, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - de novo in germ cells patient's grandfather M - United Kingdom (Great Britain) - - 0 - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, DXS296 and DXS304 present {PMID:Wilson 1991} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS466; DXS296, DXS304 present PubMed: Froissart - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - France - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, IDS2 present PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA PCR - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. IDS2 PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA PCR - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, pseudogene IDS2 present PubMed: Alves 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion PubMed: Wraith, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion PubMed: Wraith, OMIM:var0007 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS296; DXS304 present PubMed: Flomen 1992, OMIM:var0002 - - Germline - - - 0 - DNA, RNA CMC, RT-PCR, SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296 and DXS304 present PubMed: Bunge - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466, DXS304; DXS296 present PubMed: Bunge - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS 295, DXS466; DXS296 and DXS304 present {PMID:Steh-Bondeson 1992} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion incl. DXS466; DXS296, DXS295 and DXS304 present {PMID:Steh-Bondeson 1992} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-199)_(*3979_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - IDS_000156 complete gene deletion, incl. DXS296; DXS304 present {PMID:Wilson 1991} - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
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