All variants in the ISCU gene

Information The variants shown are described using the NM_014301.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+/? 3 c.74G>A r.(?) p.(Gly25Glu) - pathogenic g.108958089G>A g.108564313G>A 149G>A (Gly50Glu) - ISCU_000002 - {PMID9:Kollberg 2009:1956769}, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
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