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     
+/+ 1 c.566C>A pathogenic (dominant) r.(?) p.(Ser189*) g.53349756G>T g.53320558G>T - - IQSEC2_000066 probably no protein produced; novel, heterozygous single nucleotide polymorphism in the female proband of one family. Predicted premature stop codon. Not found in ExAC, GnomAD or dbSNP150 project databases. Located 141 nucleotides from the exon 1-2 junction. Transcript predicted to be degraded via the nonsense mediated mRNA decay pathway. Rresulting in a loss of IQSEC2 protein.Samples were not available for further family members. Publication describing variant submitted; Nat Neurosci . - - Germline/De novo (untested) yes - - 0 - Marie Shaw
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