Full data view for gene IDS

SUMMARY records: IDS variants classified following ACMG recommendations
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     
+/. _1_1i c.(?_-217)_(103+1_104-1)del r.0? p.0? Maternal (inferred) - pathogenic g.(148585824_148586564)_(148586884_?)del g.(149504294_149505034)_(149505408_?)del exon 1 deletion - IDS_000169 exon 1 deletion, breakpoint not sequenced PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - DNA PCR - - MPS2 IDS78 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_1i c.(?_-217)_(103+1_104-1)del r.0? p.0? Parent #1 - pathogenic (recessive) g.(148585824_148586564)_(148586884_?)del g.(149504294_149505034)_(149505408_?)del del ex1 dup ex4 - IDS_000169 deficient iduronate 2-sulfatase levels PubMed: Agrawal 2022 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - MPS Pat98 PubMed: Agrawal 2022 patient, no family history M - India - - - - - 1 Johan den Dunnen
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