Full data view for gene IDS

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 3 c.260G>A r.(?) p.(Ser87Asn) Parent #1 - pathogenic g.148585000C>T g.149503470C>T - - IDS_000150 - - - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M no United States - - 0 - - 1 Janell Kierstein
+/. 3i c.418+1G>A r.[397_418del;418_419ins418+1135_419-1037, 241_418del, 418_419ins418+1_418+34;418+1g>a, 418_419ins418+1_418+34{418+1g>a}ins418+1135_419-1037] p.? Parent #1 - pathogenic g.148584841C>T g.149503311C>T - - IDS_000150 RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
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