Unique variants in gene NUP93

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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.1162C>T pathogenic r.(?) p.(Arg388Trp) g.56865830C>T - - - NUP93_000002 - PubMed: Braun 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 12 c.1326del pathogenic r.(?) p.(Lys442Asnfs*14) g.56866281del - 1326delG - NUP93_000004 - PubMed: Braun 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 13i c.1537+1G>A pathogenic r.1346_1537del p.Gly449_Leu513delinsVal g.56867319G>A - - - NUP93_000005 - - - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1609C>T pathogenic r.(?) p.(Arg537Trp) g.56868111C>T - - - NUP93_000007 - - - - Germline - - - - - Ginevra Zanni
+/. 4 16 c.1772G>T pathogenic r.(?) p.(Gly591Val) g.56868680G>T - - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys) g.56870616A>G - - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - - - Johan den Dunnen
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