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_7i c.-21912_1007-1315inv r.1007_*3982delinsN[?] p.? Parent #1 - pathogenic (recessive) g.148569944_148608579inv g.149488413_149527049inv - - IDS_000095 - PubMed: Rathmann 1996 - - Germline - - - - - DNA SEQ - - MPS2 - PubMed: Rathmann 1996 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-21912_1007-1315inv r.1007_*3982delinsN[?] p.? Unknown - pathogenic (recessive) g.148569944_148608579inv g.149488413_149527049inv - - IDS_000095 inversion IDS intron 7 / IDSP1 intron 3 (1.3kb downstream) PubMed: Bondeson 1995 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - MPS PatMJ PubMed: Bondeson 1995 - M - Sweden - - - - - 1 Johan den Dunnen
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