Unique variants in the CD40LG gene

Information The variants shown are described using the NM_000074.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.32G>A r.(?) p.(Arg11Gln) - likely benign g.135730439G>A g.136648280G>A CD40LG(NM_000074.2):c.32G>A (p.R11Q) - CD40LG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.39G>A r.(?) p.(Ala13=) - likely benign g.135730446G>A g.136648287G>A CD40LG(NM_000074.2):c.39G>A (p.A13=) - CD40LG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 1 c.148T>C r.(?) p.(Leu50=) - benign g.135730555T>C g.136648396T>C CD40LG(NM_000074.2):c.148T>C (p.L50=), L50L - CD40LG_000001 recurrent, found 36 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 36/208 cases - - - Lucy Raymond, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.155A>C r.(?) p.(Lys52Thr) - VUS g.135730562A>C g.136648403A>C CD40LG(NM_000074.2):c.155A>C (p.K52T) - CD40LG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.232T>C r.(?) p.(Ser78Pro) - likely benign g.135732500T>C - CD40LG(NM_000074.2):c.232T>C (p.S78P) - CD40LG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.288+6C>T r.(=) p.(=) - likely benign g.135732562C>T g.136650403C>T CD40LG(NM_000074.2):c.288+6C>T - CD40LG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.346G>A r.[346g>a, 289_346del] p.[Val116Met, Asp97Valfs12*] - pathogenic g.135736589G>A g.136654430G>A g.6182G>A - CD40LG_000005 - - - - Germline - - - - - Hanen Ouadani
-?/. 1 - c.347G>A r.(?) p.(Gly116Asp) - likely benign g.135738515G>A - CD40LG(NM_000074.2):c.347G>A (p.G116D) - CD40LG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.348_351dup r.(?) p.(Gln118Valfs*5) - pathogenic g.135738516_135738519dup g.136656357_136656360dup g.8109_8112dupTGAT - CD40LG_000003 - - - - Germline - - - - - Hanen Ouadani
-/., -?/. 2 - c.410-13T>C r.(=) p.(=) - benign, likely benign g.135741185T>C g.136659026T>C CD40LG(NM_000074.2):c.410-13T>C - CD40LG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.487G>A r.(?) p.(Val163Ile) - likely benign g.135741275G>A g.136659116G>A CD40LG(NM_000074.2):c.487G>A (p.V163I) - CD40LG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.495_499del r.(?) p.(Gln166ThrfsTer33) - pathogenic g.135741283_135741287del g.136659124_136659128del CD40LG(NM_000074.2):c.495_499delACAAG (p.Q166Tfs*33) - CD40LG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.542G>A r.(?) p.(Arg181Gln) - benign g.135741330G>A g.136659171G>A CD40LG(NM_000074.2):c.542G>A (p.R181Q) - CD40LG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.562C>G r.(?) p.(Pro188Ala) - VUS g.135741350C>G - CD40LG(NM_000074.2):c.562C>G (p.P188A) - CD40LG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.590C>G r.(?) p.(Ser197Cys) - VUS g.135741378C>G g.136659219C>G CD40LG(NM_000074.2):c.590C>G (p.(Ser197Cys)) - CD40LG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.594C>T r.(?) p.(Pro198=) - likely benign g.135741382C>T - CD40LG(NM_000074.2):c.594C>T (p.P198=) - CD40LG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.601T>C r.(?) p.(Phe201Leu) - likely benign g.135741389T>C g.136659230T>C CD40LG(NM_000074.2):c.601T>C (p.F201L) - CD40LG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 5 c.655G>A r.(?) p.(Gly219Arg) - likely benign, VUS g.135741443G>A g.136659284G>A CD40LG(NM_000074.2):c.655G>A (p.G219R), G219R - CD40LG_000002 recurrent, found 3 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 3/208 cases - - - Lucy Raymond, VKGL-NL_Utrecht
+/. 1 - c.761C>T r.(?) p.(Thr254Met) - pathogenic g.135741549C>T g.136659390C>T CD40LG(NM_000074.2):c.761C>T (p.T254M) - CD40LG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.782_*2del r.(?) p.(Leu261Glnfs*50) - pathogenic g.135741570_135741576del g.136659411_136659417del g.11163_11169delTCTGAAC - CD40LG_000004 - - - - Germline - - - - - Hanen Ouadani
-?/. 1 5 c.*505del r.(?) p.(=) - likely benign g.135742079del g.136659920del - - CD40LG_000006 - - - - Germline - - - - - Yu Sun
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alias TNFSF5