Full data view for gene NKAP

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

15 entries on 1 page. Showing entries 1 - 15.
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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     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.386+170A>G - - 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 - - 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 - - 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 - - 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 - - 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 - - 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 - - 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 - - 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 - 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 - - 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 - - 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 - - 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 - - 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 - - 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
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