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     
-?/. - c.494C>T likely benign r.(?) p.(Ala165Val) g.53349828G>A - IQSEC2(NM_001111125.2):c.494C>T (p.(Ala165Val)) - IQSEC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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