All transcript variants in gene NUP93

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

11 entries on 1 page. Showing entries 1 - 11.
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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     
-?/. - c.179+9T>G r.(=) p.(=) - likely benign g.56782347T>G - NUP93(NM_014669.4):c.179+9T>G - NUP93_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1162C>T r.(?) p.(Arg388Trp) - pathogenic g.56865830C>T g.56831918C>T - - NUP93_000002 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.1326del r.(?) p.(Lys442Asnfs*14) - pathogenic g.56866281del g.56832369del 1326delG - NUP93_000004 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 13i c.1537+1G>A r.1346_1537del p.Gly449_Leu513delinsVal - pathogenic g.56867319G>A g.56833407G>A - - NUP93_000005 - - - - Germline - - - 0 - Johan den Dunnen
+/. - c.1609C>T r.(?) p.(Arg537Trp) - pathogenic g.56868111C>T g.56834199C>T - - NUP93_000007 - - - - Germline - - - 0 - Ginevra Zanni
+/. 16 c.1772G>T r.(?) p.(Gly591Val) - pathogenic g.56868680G>T g.56834768G>T - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.1772G>T r.(?) p.(Gly591Val) - pathogenic g.56868680G>T g.56834768G>T - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.1772G>T r.(?) p.(Gly591Val) - pathogenic g.56868680G>T g.56834768G>T - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.1772G>T r.(?) p.(Gly591Val) - pathogenic g.56868680G>T g.56834768G>T - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 17 c.1886A>G r.(?) p.(Tyr629Cys) - pathogenic g.56870616A>G g.56836704A>G - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 17 c.1886A>G r.(?) p.(Tyr629Cys) - pathogenic g.56870616A>G g.56836704A>G - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - Johan den Dunnen
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