Full data view for gene IDS

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.262C>T - r.(?) p.Arg88Cys Parent #1 g.148584998G>A - - - IDS_000018 RNA level 1.5 of normal PubMed: Alves 2006 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Yu Sun
+/. 3 c.262C>T - r.(?) p.Arg88Cys Parent #1 g.148584998G>A - - - IDS_000018 - PubMed: Rathmann 1996 - - De novo - - - 0 - DNA SEQ - - MPS-2 - - - M - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.262C>T - r.(?) p.Arg88Cys Parent #1 g.148584998G>A - - - IDS_000018 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Spain - - 0 - - 1 Johan den Dunnen
+/. 3 c.262C>T - r.(?) p.Arg88Cys Parent #1 g.148584998G>A - - - IDS_000018 - PubMed: Rathmann 1996 - - Germline - - - 0 - DNA SEQ - - MPS-2 - - - M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 3 c.262C>T - r.(?) p.Arg88Cys Parent #1 g.148584998G>A - 386C>T - IDS_000018 - PubMed: Moreira da Silva 2001 - - Germline - - AluI+ 0 - DNA SEQ - - MPS-2 - - - M - Portugal - - 0 - - 1 Johan den Dunnen
+/. 3 c.262C>T - r.(?) p.(Arg88Cys) Maternal (inferred) g.148584998G>A - - - IDS_000018 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - - De novo - - - 0 - DNA SEQ - - MPS-2 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - 1 Miguel Angel Alcántara-Ortigoza
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