Transcript #00014935

Transcript name transcript variant 1
Gene name NUP93 (nucleoporin 93kDa)
Chromosome 16
Transcript - NCBI ID NM_014669.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_055484.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.1162C>T pathogenic r.(?) p.(Arg388Trp)
+/. 12 c.1326del pathogenic r.(?) p.(Lys442Asnfs*14)
+/. 13i c.1537+1G>A pathogenic r.1346_1537del p.Gly449_Leu513delinsVal
+/. - c.1609C>T pathogenic r.(?) p.(Arg537Trp)
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val)
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val)
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val)
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val)
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys)
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys)
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