Unique variants in gene NAP1L3

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. 1 - c.52G>T r.(?) p.(Ala18Ser) - VUS g.92928252C>A - NAP1L3(NM_004538.5):c.52G>T (p.(Ala18Ser)) - NAP1L3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.148_174del r.(?) p.(Ser50_Ser58del) - likely benign g.92928135_92928161del - NAP1L3(NM_004538.5):c.148_174del (p.(Ser50_Ser58del)) - NAP1L3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.175_177dup r.(?) p.(Gly59dup) - likely benign g.92928129_92928131dup - NAP1L3(NM_004538.5):c.177_178insGGC (p.(Gly59dup)) - NAP1L3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.190_195del r.(?) p.(Ser64_Ser65del) - VUS g.92928109_92928114del, g.92928123_92928128del - 190_195delAGCAGC, NAP1L3(NM_004538.5):c.190_195del (p.(Ser64_Ser65del)) - NAP1L3_000002 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 3 - c.670C>G r.(?) p.(Pro224Ala) - - g.92927634G>C g.93672635G>C - - NAP1L3_000001 recurrent, found 127 times PubMed: Tarpey 2009 - - Germline - 127/208 cases - - - Lucy Raymond, Yu Sun
-?/. 1 - c.855T>C r.(?) p.(=) - likely benign g.92927449A>G - NAP1L3(NM_004538.5):c.855T>C (p.P285=) - NAP1L3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 2 - c.926A>G r.(?) p.(Lys309Arg) - likely benign g.92927378T>C - NAP1L3(NM_004538.5):c.926A>G (p.(Lys309Arg)) - NAP1L3_000005 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.1114G>T r.(?) p.(Val372Leu) - likely benign g.92927190C>A - NAP1L3(NM_004538.5):c.1114G>T (p.V372L) - NAP1L3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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