All transcript variants in gene NUP93

Information The variants shown are described using the NM_014669.4 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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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.1609C>T pathogenic r.(?) p.(Arg537Trp) g.56868111C>T - - - NUP93_000007 - - - - Germline - - - 0 - Ginevra Zanni
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