All transcript variants in gene IDS

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
+/. 7i_8i c.(1007-10_1180+10)? - r.1007_1180del p.(Trp337_Gly394del) 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 - - - 0 - Miguel Angel Alcántara-Ortigoza
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