Full data view for gene IDS

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

3 entries on 1 page. Showing entries 1 - 3.
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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 c.22C>T r.(?) p.(Arg8*) Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - {PMID:Vafiadaki 1998} - - Germline - - -EagI 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.22C>T r.22c>u p.Arg8* Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - PubMed: Filocamo 2001 - - Germline - - -EagI 0 - DNA SEQ - - MPS-2 - - - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.22C>T r.(?) p.(Arg8*) Parent #1 - pathogenic g.148586646G>A g.149505116G>A - - IDS_000019 - PubMed: Vafiadaki 1998 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
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