Unique variants in the LANCL3 gene

Information The variants shown are described using the NM_198511.2 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     
?/. 1 - c.127C>G r.(?) p.(Pro43Ala) - VUS g.37431250C>G g.37571997C>G LANCL3(NM_198511.2):c.127C>G (p.P43A) - LANCL3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.187G>T r.(?) p.(Gly63Trp) - VUS g.37431310G>T g.37572057G>T LANCL3(NM_001170331.1):c.187G>T (p.(Gly63Trp)) - LANCL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.281G>A r.(?) p.(Arg94His) - VUS g.37431404G>A g.37572151G>A LANCL3(NM_198511.2):c.281G>A (p.R94H) - LANCL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.300C>G r.(?) p.(Ile100Met) - VUS g.37431423C>G g.37572170C>G LANCL3(NM_001170331.1):c.300C>G (p.(Ile100Met)) - LANCL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.512T>C r.(?) p.(Phe171Ser) - likely benign g.37431635T>C g.37572382T>C LANCL3(NM_198511.2):c.512T>C (p.F171S) - LANCL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.566C>T r.(?) p.(Ala189Val) - VUS g.37431689C>T g.37572436C>T LANCL3(NM_001170331.1):c.566C>T (p.(Ala189Val)) - LANCL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.717G>A r.(=) p.(=) - likely benign g.37518734G>A g.37659481G>A S239S - LANCL3_000009 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.789C>T r.(=) p.(=) - likely benign g.37518806C>T g.37659553C>T S263S - LANCL3_000010 recurrent, found 33 times PubMed: Tarpey 2009 - - Germline - 33/208 cases - - - Lucy Raymond
?/. 1 - c.821G>A r.(?) p.(Cys274Tyr) - VUS g.37518838G>A g.37659585G>A LANCL3(NM_001170331.1):c.821G>A (p.(Cys274Tyr)) - LANCL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.866A>T r.(?) p.(Glu289Val) - VUS g.37518883A>T g.37659630A>T LANCL3(NM_001170331.1):c.866A>T (p.(Glu289Val)) - LANCL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1142T>C r.(?) p.(Leu381Pro) - VUS g.37527659T>C g.37668406T>C - - LANCL3_000011 recurrent, found 13 times PubMed: Tarpey 2009 - - Germline - 13/208 cases - - - Lucy Raymond
-?/. 1 - c.1145A>G r.(?) p.(Tyr382Cys) - likely benign g.37527662A>G g.37668409A>G LANCL3(NM_198511.2):c.1145A>G (p.Y382C) - LANCL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1150A>G r.(?) p.(Arg384Gly) - likely benign g.37527667A>G g.37668414A>G LANCL3(NM_198511.2):c.1150A>G (p.R384G, p.(Arg384Gly)) - LANCL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.*1504_*1505del r.(=) p.(=) - VUS g.37536391_37536392del g.37677138_37677139del - - LANCL3_000001 - - - - Germline - - - - - Yu Sun
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