Full data view for gene NKAP

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.998G>A r.(?) p.(Arg333Gln) Unknown - pathogenic (recessive) 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 r.(?) p.(Arg333Gln) Unknown - pathogenic (recessive) 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 r.(?) p.(Arg333Gln) Maternal (confirmed) - pathogenic (recessive) 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 r.(?) p.(Arg333Gln) Maternal (confirmed) - pathogenic (recessive) 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 r.(?) p.(Arg333Gln) Maternal (confirmed) - pathogenic (recessive) 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 r.(?) p.(Arg333Gln) Unknown - pathogenic (recessive) 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
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