Full data view for gene NKAP

Information The variants shown are described using the NM_024528.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age/Death     

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Data_av     

Treatment     

Panel size     

Owner     
?/. - c.386+170A>G likely benign - p.(=) Maternal (inferred) g.119077013T>C g.119943050T>C - - NKAP_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.386+170A>G likely benign - p.(=) Maternal (inferred) g.119077013T>C g.119943050T>C - - NKAP_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.467+890G>A likely benign - p.(=) Maternal (inferred) g.119071803C>T g.119937840C>T - - NKAP_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.467+890G>A likely benign - p.(=) Maternal (inferred) g.119071803C>T g.119937840C>T - - NKAP_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.538+8T>A likely benign - p.(=) Maternal (inferred) g.119070567A>T g.119936604A>T - - NKAP_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.538+8T>A likely benign - p.(=) Maternal (inferred) g.119070567A>T g.119936604A>T - - NKAP_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.539-17A>T likely benign - p.(=) Maternal (inferred) g.119070411T>A g.119936448T>A - - NKAP_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.539-17A>T likely benign - p.(=) Maternal (inferred) g.119070411T>A g.119936448T>A - - NKAP_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4 c.603_605del likely benign r.(?) p.(Ser202del) Parent #1 g.119070328_119070330del - 603_605delATC S202_K203>K - NKAP_000016 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-?/. - c.673+8C>T likely benign r.(=) p.(=) Unknown g.119070252G>A - NKAP(NM_024528.3):c.673+8C>T (p.(=)) - NKAP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737+147G>A likely benign - p.(=) Maternal (inferred) g.119068310C>T g.119934347C>T - - NKAP_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.737+147G>A likely benign - p.(=) Maternal (inferred) g.119068310C>T g.119934347C>T - - NKAP_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.923+6C>T likely benign - p.(=) Maternal (inferred) g.119065893G>A g.119931930G>A - - NKAP_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.923+6C>T likely benign - p.(=) Maternal (inferred) g.119065893G>A g.119931930G>A - - NKAP_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.924-318C>G likely benign - p.(=) Maternal (inferred) g.119064446G>C g.119930483G>C - - NKAP_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.988C>T pathogenic (recessive) r.(?) p.(Arg330Cys) Unknown g.119064064G>A g.119930101G>A - - NKAP_000022 - PubMed: Fiordaliso 2019 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - 0 - - 1 Johan den Dunnen
+/. - c.989G>A pathogenic (recessive) r.(?) p.(Arg330His) Unknown g.119064063C>T g.119930100C>T - - NKAP_000021 - PubMed: Fiordaliso 2019 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Korea - - 0 - - 1 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Unknown g.119064054C>T g.119930091C>T - - NKAP_000020 probable germline mosaicism mother PubMed: Fiordaliso 2019 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam1Pat3 PubMed: Fiordaliso 2019 2-generation family, 2 affected brothers, unaffected non-carrier parents M - Japan - - 0 - - 2 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Unknown g.119064054C>T g.119930091C>T - - NKAP_000020 probable germline mosaicism mother PubMed: Fiordaliso 2019 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam1Pat4 PubMed: Fiordaliso 2019 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Maternal (confirmed) g.119064054C>T g.119930091C>T - - NKAP_000020 - PubMed: Fiordaliso 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam2Pat5 PubMed: Fiordaliso 2019 3-generation family, 4 affected (4M), 2 carrier mothers M no Slovakia (Slovak Republic) - - 0 - - 2 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Maternal (confirmed) g.119064054C>T g.119930091C>T - - NKAP_000020 - PubMed: Fiordaliso 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Fam2Pat6 PubMed: Fiordaliso 2019 - M no Slovakia (Slovak Republic) - - 0 - - 1 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Maternal (confirmed) g.119064054C>T g.119930091C>T - - NKAP_000020 - PubMed: Fiordaliso 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Hackmann 2016, PubMed: Fiordaliso 2019 2-generation family, 1 affected, carrier mother M no Germany - - 0 - - 1 Johan den Dunnen
+/. - c.998G>A pathogenic (recessive) r.(?) p.(Arg333Gln) Unknown g.119064054C>T g.119930091C>T - - NKAP_000020 - PubMed: Fiordaliso 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat8 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - 0 - - 1 Johan den Dunnen
+/. - c.1010T>C pathogenic (recessive) r.(?) p.(Ile337Thr) Unknown g.119064042A>G g.119930079A>G - - NKAP_000019 - PubMed: Fiordaliso 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat9 PubMed: McRae 2017, PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1082G>A pathogenic (recessive) r.(?) p.(Arg361Gln) Unknown g.119059349C>T g.119925386C>T - - NKAP_000018 father not available PubMed: Fiordaliso 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat10 PubMed: Fiordaliso 2019 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - - 1 Johan den Dunnen
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