All transcript variants in gene IQSEC2

Information The variants shown are described using the NM_001111125.1 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     
+/. 11i c.3116-3_3116-2del pathogenic (dominant) r.3116_3194del p.Tyr1039Serfs*37 g.53267490_53267491del - 3116-2delCA g.8790211delCA - IQSEC2_000018 - PubMed: Madrigal 2016 - - Germline - - - 0 - Irene Madrigal
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