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.

16 entries on 1 page. Showing entries 1 - 16.
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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.-310_-133del r.(=|red) p.(=) Unknown - pathogenic (recessive) g.148586802_148586979del g.149505272_149505449del g.271996_272174del - IDS_000000 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. _1 c.-310_-133del r.(=|red) p.(=) Unknown - pathogenic (recessive) g.148586802_148586979del g.149505272_149505449del g.271996_272174del - IDS_000000 - PubMed: Josahkian 2021 - - Germline - - - - - DNA SEQ - - MPS - PubMed: Josahkian 2021 patient - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated. PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI - - DNA PCRdig - - MPS2 IDS3 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI - - DNA PCRdig - - MPS2 IDS33 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.? Maternal (confirmed) - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv IDS inversion IDSP1-mediated - IDS_000000 IDS inversion IDSP1-mediated PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - HinfI - - DNA PCRdig - - MPS2 IDS60 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 1_2 c.? r.1_115del p.? Unknown - pathogenic (recessive) g.? - del125-239 - IDS_000000 - PubMed: Schroder 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS PatG-117 PubMed: Schroder 1994 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - - - IDS_000000 genomic rearrangement; no detectable enzyme activity PubMed: Olsen 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat4 PubMed: Olsen 1996 - M - Norway - 8y - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - - - IDS_000000 genomic rearrangement; no detectable enzyme activity PubMed: Olsen 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS Pat5 PubMed: Olsen 1996 - M - Norway - - - - - 1 Johan den Dunnen
+/. 7i_9 c.? r.? p.? Maternal (confirmed) - pathogenic (recessive) g.? - rearrangement, transcript lacking ex8-9 - IDS_000000 - PubMed: Keeratichamroen 2008 - - Germline - - - - - DNA SEQ - - MPS Pat20 PubMed: Keeratichamroen 2008 patient, no family history M - Thailand - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - IDS-IDS2 recombination - IDS_000000 - PubMed: Kosuga 2016 - - Germline - - - - - DNA PCR, SEQ - - MPS Pat54-56,58-61 PubMed: Kosuga 2016 - M - Japan - - - - - 7 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.(138000001_147100000)_qterdelins[NC_000005.10:g.(130600001_149800000)_qter] g.(138900001_148000000)_qterdelins[NC_000005.10:g.(131200001_150400000)_qter] - 46,XX,t(X;5)(q27;q31-q32) IDS_000000 - PubMed: Mossman 1983 - - De novo - - - - - DNA microscope - - MPS patient PubMed: Mossman 1983 affected female F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt) - IDS_000000 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam206Pat227 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt) - IDS_000000 IDS activity plasma 0.01 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Fam207Pat228 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - recomb 7i to distal ex3 IDS2, del ex3-7 IDS (Lagerstedt) - IDS_000000 IDS activity plasma 0.12 (reference 297-705 nmol/4h/ml) PubMed: Semyachkina 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Pat227 PubMed: Semyachkina 2021 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 2i_7i c.240+12_(1006+1_1007-1)delins(?) r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del] Parent #1 - pathogenic g.? - - - IDS_000000 IDS-IDS2 pseudogene rearrangement, internal deletion exons 4-7 replaced by pseudogene 3i_7i related sequences PubMed: Birot 1996 - - Germline - - - - - DNA SEQ - - MPS2 - PubMed: Birot 1996 - M - France - - - - - 1 Johan den Dunnen
+/. 7i_8i c.(1007-10_1180+10)? r.1007_1180del p.(Trp337_Gly394del) Maternal (confirmed) - pathogenic g.(148568446_148568639)? - RNA exon 8 skip - IDS_000000 variant unknown at genomic DNA level, normal results were obtained after PCR-RFLP Hinf restriction pattern for IDS/IDSP1 inversin and after complete IDS exon/exon-intron border sequencing. PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - Germline - - - - - DNA, RNA PCRdig, RT-PCR, SEQ - - MPS2 IDS5 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
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