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_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 inversion IDS-intron7 / IDS2 exon3; present in 13% patients PubMed: Bondeson 1995 - - Germline - - - - - DNA Southern, SEQ - - MPS2 - - - M - Sweden - - - - - 7 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 - PubMed: Isogai 1998 - - De novo - - - - - DNA Southern - - MPS2 - PubMed: Isogai 1998 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.0 Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 recombination IDS/IDS2 gene PubMed: Moreira da Silva 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPS2 H1 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Parent #1 - pathogenic g.(148568630_148571844)_(148586884_?)inv g.(149486999_149490313)_(149505354_?)inv - - IDS_000082 recombination between intron 7 of IDS gene and sequences located distal of exon 3 in IDS-2 PubMed: Alves 2006 - - Germline - - - - - DNA SEQ - - MPS2 - PubMed: Alves 2006 - M - Portugal - - - - - 1 Yu Sun
+/. _1_7i c.(?_-217)_(1006+1_1007-1)inv r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804] p.? Unknown - pathogenic (recessive) g.148569718_148608804inv g.149488187_149527274inv - - IDS_000082 - PubMed: Tang 2022 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, RT-PCR, SEQ - - MPS Pat1 PubMed: Tang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-217)_(1006+1_1007-1)inv r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804] p.? Unknown - pathogenic (recessive) g.148569718_148608804inv g.149488187_149527274inv - - IDS_000082 - PubMed: Tang 2022 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, RT-PCR, SEQ - - MPS Pat2 PubMed: Tang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-217)_(1006+1_1007-1)inv r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804] p.? Unknown - pathogenic (recessive) g.148569718_148608804inv g.149488187_149527274inv - - IDS_000082 - PubMed: Tang 2022 - - De novo - - - - - DNA, RNA PCR, RT-PCR, SEQ - - MPS Pat3 PubMed: Tang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-217)_(1006+1_1007-1)inv r.[-217_1006::NM_001171907.1:r.-229_*804,-217_1006::NC_000023.10:g.148615707_148615869::NM_001171907.1:r.-229_*804] p.? Unknown - pathogenic (recessive) g.148569718_148608804inv g.149488187_149527274inv - - IDS_000082 - PubMed: Tang 2022 - - Germline/De novo (untested) - - - - - DNA, RNA PCR, RT-PCR, SEQ - - MPS Pat4 PubMed: Tang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-217)_(1006+1_1007-1)inv r.? p.? Unknown - pathogenic (recessive) g.(148569718_148608804)inv g.(149488187_14952727)4inv IDS/IDS2 inversion - IDS_000082 - PubMed: Jezela-Stanek 2021 - - Germline/De novo (untested) - - - - - DNA PCR - - MPS Pat3 PubMed: Jezela-Stanek 2021 - M - Poland - - - - - 1 Johan den Dunnen
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