Full data view for gene NUP93

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Remarks     

Disease     

ID_report     

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Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

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Panel size     

Owner     
+/. - c.1162C>T pathogenic r.(?) p.(Arg388Trp) Paternal (confirmed) g.56865830C>T - - - NUP93_000002 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamA2403Pat21 PubMed: Braun 2016 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - Serbia - - 0 - - 1 Johan den Dunnen
+/. 12 c.1326del pathogenic r.(?) p.(Lys442Asnfs*14) Maternal (confirmed) g.56866281del - 1326delG - NUP93_000004 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamAA3256Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - 0 - - 1 Johan den Dunnen
+/. 13i c.1537+1G>A pathogenic r.1346_1537del p.Gly449_Leu513delinsVal Maternal (confirmed) g.56867319G>A - - - NUP93_000005 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPHS 26878725-FamA1394Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.1609C>T pathogenic r.(?) p.(Arg537Trp) Unknown g.56868111C>T - - - NUP93_000007 - - - - Germline - - - 0 - DNA SEQ-NG-I blood - - - - - M no Italy - - 0 - - 2 Ginevra Zanni
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val) Maternal (confirmed) g.56868680G>T - - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamA2403Pat21 PubMed: Braun 2016 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - Serbia - - 0 - - 1 Johan den Dunnen
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val) Paternal (confirmed) g.56868680G>T - - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamAA3256Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - 0 - - 1 Johan den Dunnen
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val) Paternal (confirmed) g.56868680G>T - - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPHS 26878725-FamA1394Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - 0 - - 1 Johan den Dunnen
+/. 16 c.1772G>T pathogenic r.(?) p.(Gly591Val) Both (homozygous) g.56868680G>T - - - NUP93_000003 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamA1626Pat21/22 PubMed: Braun 2016 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F;M no Turkey - - 0 - - 2 Johan den Dunnen
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys) Both (homozygous) g.56870616A>G - - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamA1671Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - 0 - - 1 Johan den Dunnen
+/. 17 c.1886A>G pathogenic r.(?) p.(Tyr629Cys) Both (homozygous) g.56870616A>G - - - NUP93_000006 - PubMed: Braun 2016 - - Germline - - - 0 - DNA SEQ - - NPHS 26878725-FamA2241Pat21 PubMed: Braun 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - 0 - - 1 Johan den Dunnen
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