Unique variants in gene NKAP

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

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     
?/. 2 - c.386+170A>G - p.(=) - likely benign g.119077013T>C g.119943050T>C - - NKAP_000012 - - - - Germline - - - - - Yu Sun
?/. 2 - c.467+890G>A - p.(=) - likely benign g.119071803C>T g.119937840C>T - - NKAP_000009 - - - - Germline - - - - - Yu Sun
?/. 2 - c.538+8T>A - p.(=) - likely benign g.119070567A>T g.119936604A>T - - NKAP_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.539-17A>T - p.(=) - likely benign g.119070411T>A g.119936448T>A - - NKAP_000003 - - - - Germline - - - - - Yu Sun
?/. 1 4 c.603_605del r.(?) p.(Ser202del) - likely benign g.119070328_119070330del - 603_605delATC S202_K203>K - NKAP_000016 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
-?/. 1 - c.673+8C>T r.(=) p.(=) - likely benign g.119070252G>A - NKAP(NM_024528.3):c.673+8C>T (p.(=)) - NKAP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.737+147G>A - p.(=) - likely benign g.119068310C>T g.119934347C>T - - NKAP_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.923+6C>T - p.(=) - likely benign g.119065893G>A g.119931930G>A - - NKAP_000015 - - - - Germline - - - - - Yu Sun
?/. 1 - c.924-318C>G - p.(=) - likely benign g.119064446G>C g.119930483G>C - - NKAP_000014 - - - - Germline - - - - - Yu Sun
+/. 1 - c.988C>T r.(?) p.(Arg330Cys) - pathogenic (recessive) g.119064064G>A g.119930101G>A - - NKAP_000022 - PubMed: Fiordaliso 2019 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.989G>A r.(?) p.(Arg330His) - pathogenic (recessive) g.119064063C>T g.119930100C>T - - NKAP_000021 - PubMed: Fiordaliso 2019 - - De novo - - - - - Johan den Dunnen
+/. 6 - c.998G>A r.(?) p.(Arg333Gln) - pathogenic (recessive) g.119064054C>T g.119930091C>T - - NKAP_000020 probable germline mosaicism mother PubMed: Fiordaliso 2019 - - De novo, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1010T>C r.(?) p.(Ile337Thr) - pathogenic (recessive) g.119064042A>G g.119930079A>G - - NKAP_000019 - PubMed: DDDS 2017, PubMed: Fiordaliso 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1082G>A r.(?) p.(Arg361Gln) - pathogenic (recessive) g.119059349C>T g.119925386C>T - - NKAP_000018 father not available PubMed: Fiordaliso 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
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