Full data view for gene NAP1L3

Information The variants shown are described using the NM_004538.5 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Consanguinity     

Country     

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Age/Death     

VIP     

Data_av     

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Panel size     

Owner     
?/. - c.52G>T VUS r.(?) p.(Ala18Ser) Unknown g.92928252C>A - NAP1L3(NM_004538.5):c.52G>T (p.(Ala18Ser)) - NAP1L3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.148_174del likely benign r.(?) p.(Ser50_Ser58del) Unknown g.92928135_92928161del - NAP1L3(NM_004538.5):c.148_174del (p.(Ser50_Ser58del)) - NAP1L3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175_177dup likely benign r.(?) p.(Gly59dup) Unknown g.92928129_92928131dup - NAP1L3(NM_004538.5):c.177_178insGGC (p.(Gly59dup)) - NAP1L3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190_195del VUS r.(?) p.(Ser64_Ser65del) Unknown g.92928123_92928128del - NAP1L3(NM_004538.5):c.190_195del (p.(Ser64_Ser65del)) - NAP1L3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.190_195del - r.(?) p.(Ser64_Ser65del) Parent #1 g.92928109_92928114del - 190_195delAGCAGC - NAP1L3_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.670C>G - - p.(Pro224Ala) Maternal (inferred) g.92927634G>C g.93672635G>C - - NAP1L3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.670C>G - - p.(Pro224Ala) Maternal (inferred) g.92927634G>C g.93672635G>C - - NAP1L3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.670C>G - r.(?) p.(Pro224Ala) Parent #1 g.92927634G>C - - - NAP1L3_000001 recurrent, found 127 times PubMed: Tarpey 2009 - - Germline - 127/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 127 Lucy Raymond
?/. - c.926A>G - r.(?) p.(Lys309Arg) Parent #1 g.92927378T>C - - - NAP1L3_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.926A>G likely benign r.(?) p.(Lys309Arg) Unknown g.92927378T>C - NAP1L3(NM_004538.5):c.926A>G (p.(Lys309Arg)) - NAP1L3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114G>T likely benign r.(?) p.(Val372Leu) Unknown g.92927190C>A - NAP1L3(NM_004538.5):c.1114G>T (p.V372L) - NAP1L3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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