All transcript variants in gene NUP93

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys) g.56870616A>G - - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys) g.56870616A>G - - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
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