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.

20 entries on 1 page. Showing entries 1 - 20.
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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.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv IDS/IDS2 inversion - IDS_000664 break point sequences GenBank U77685/U77686 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatI PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. _1_7i c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv - - IDS_000664 break point sequences GenBank U77689/U77690 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatIII PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. _1_7i c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv - - IDS_000664 break point sequences GenBank U77691/U77692 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatIV PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. _1_7i c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv - - IDS_000664 break point sequences GenBank U77693/U77694 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatV PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. _1_7i c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv - - IDS_000664 break point sequences GenBank U77695/U77696 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatVI PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. _1_7i c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv - - IDS_000664 break point sequences GenBank U77687/U77688 PubMed: Lagerstedt 1997 - - Germline - - - - - DNA PCR, SEQ - - MPS2 PatII PubMed: Lagerstedt 1997 - M - Sweden - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam193Pat213 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam194Pat214 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam195Pat215 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 2.5 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam196Pat216 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 7.2 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam197Pat217 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.43 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam198Pat218 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 2.4 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam199Pat219 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA PCR - - MPS Fam199Pat220 PubMed: Semyachkina 2021 family, 2 affected (2M) M - Russia - - - - - 2 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 3.6 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline - - - - - DNA PCR - - MPS Fam200Pat221 PubMed: Semyachkina 2021 relative M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam201Pat222 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam202Pat223 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 5.1 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam203Pat224 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 2.3 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam204Pat225 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.-22130_1007-1089inv r.? p.? Unknown - pathogenic (recessive) g.148569718_148608797inv g.149488187_149527266inv recomb 7i to distal ex3 IDS2, no del ex (Lagerstedt) - IDS_000664 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam205Pat226 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
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