Unique variants in the NUP62CL gene

Information The variants shown are described using the NM_017681.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.71C>T r.(?) p.(Thr24Met) - VUS g.106411002G>A - NUP62CL(NM_017681.2):c.71C>T (p.T24M) - NUP62CL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.195-161del r.(=) p.(=) - VUS g.106397644del g.107154414del - - NUP62CL_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.195-159del r.(=) p.(=) - VUS g.106397636del g.107154406del - - NUP62CL_000008 - - - - Germline - - - - - Yu Sun
?/. 2 - c.216G>C r.(?) p.(Met72Ile) - VUS g.106397455C>G g.107154225C>G M72I, NUP62CL(NM_017681.2):c.216G>C (p.M72I) - NUP62CL_000016 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.426A>G r.(=) p.(=) - VUS g.106396506T>C g.107153276T>C S142S - NUP62CL_000015 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
-?/. 1 - c.473C>T r.(?) p.(Thr158Met) - likely benign g.106396459G>A g.107153229G>A NUP62CL(NM_017681.2):c.473C>T (p.T158M) - NUP62CL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.476G>A r.(?) p.(Arg159His) - VUS g.106396456C>T g.107153226C>T NUP62CL(NM_017681.2):c.476G>A (p.(Arg159His)) - NUP62CL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.477T>C r.(=) p.(=) - VUS g.106396455A>G g.107153225A>G R159R - NUP62CL_000014 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
?/. 1 - c.530T>C r.(?) p.(Ile177Thr) - VUS g.106396402A>G g.107153172A>G M177T - NUP62CL_000013 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
?/. 2 - c.*43-192dup r.(=) p.(=) - VUS g.106367765dup g.107124535dup - - NUP62CL_000004, NUP62CL_000010 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*503C>T r.(=) p.(=) - VUS g.106367102G>A g.107123872G>A - - NUP62CL_000005 - - - - Germline - - - - - Yu Sun
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