Full data view for gene IDS

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 inversion IDS-intron7 / IDS2 exon3; present in 13% patients PubMed: Bondeson 1995 - - Germline - - - 0 - DNA Southern, SEQ - - MPS-2 - - - M - Sweden - - 0 - - 7 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - 0 - DNA Southern - - MPS-2 - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.0 Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 recombination IDS/IDS2 gene PubMed: Moreira da Silva 2001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.? Parent #1 g.(148568630_148571844)_(148586884_?)inv - - - IDS_000082 recombination between intron 7 of IDS gene and sequences located distal of exon 3 in IDS-2 PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
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