Full data view for gene CD40LG

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

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.32G>A r.(?) p.(Arg11Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39G>A r.(?) p.(Ala13=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.148T>C r.(?) p.(Leu50=) Maternal (inferred) - benign g.135730555T>C g.136648396T>C L50L - CD40LG_000001 recurrent, found 36 times PubMed: Tarpey 2009 - - Germline - 36/208 cases - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 36 Johan den Dunnen
-/. - c.148T>C r.(?) p.(Leu50=) Unknown - benign g.135730555T>C g.136648396T>C CD40LG(NM_000074.2):c.148T>C (p.L50=) - CD40LG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.148T>C r.(?) p.(Leu50=) Unknown - benign g.135730555T>C g.136648396T>C CD40LG(NM_000074.2):c.148T>C (p.L50=) - CD40LG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.155A>C r.(?) p.(Lys52Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.232T>C r.(?) p.(Ser78Pro) Unknown - likely benign g.135732500T>C - CD40LG(NM_000074.2):c.232T>C (p.S78P) - CD40LG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288+6C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.346G>A r.[346g>a, 289_346del] p.[Val116Met, Asp97Valfs12*] Both (homozygous) - pathogenic g.135736589G>A g.136654430G>A g.6182G>A - CD40LG_000005 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HIGM-1 - - - M - Tunisia - - 0 - - 1 Hanen Ouadani
-?/. - c.347G>A r.(?) p.(Gly116Asp) Unknown - likely benign g.135738515G>A - CD40LG(NM_000074.2):c.347G>A (p.G116D) - CD40LG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.348_351dup r.(?) p.(Gln118Valfs*5) Maternal (inferred) - pathogenic g.135738516_135738519dup g.136656357_136656360dup g.8109_8112dupTGAT - CD40LG_000003 - - - - Germline - - - 0 - DNA SEQ - - HIGM-1 - - - M no Tunisia - - 0 - - 1 Hanen Ouadani
-/. - c.410-13T>C r.(=) p.(=) Unknown - benign g.135741185T>C g.136659026T>C CD40LG(NM_000074.2):c.410-13T>C - CD40LG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.410-13T>C r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.487G>A r.(?) p.(Val163Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.495_499del r.(?) p.(Gln166ThrfsTer33) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.542G>A r.(?) p.(Arg181Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.562C>G r.(?) p.(Pro188Ala) Unknown - VUS g.135741350C>G - CD40LG(NM_000074.2):c.562C>G (p.P188A) - CD40LG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590C>G r.(?) p.(Ser197Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.594C>T r.(?) p.(Pro198=) Unknown - likely benign g.135741382C>T - CD40LG(NM_000074.2):c.594C>T (p.P198=) - CD40LG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601T>C r.(?) p.(Phe201Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.655G>A r.(?) p.(Gly219Arg) Maternal (inferred) - VUS g.135741443G>A g.136659284G>A G219R - CD40LG_000002 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Johan den Dunnen
-?/. - c.655G>A r.(?) p.(Gly219Arg) Unknown - likely benign g.135741443G>A g.136659284G>A CD40LG(NM_000074.2):c.655G>A (p.G219R) - CD40LG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.761C>T r.(?) p.(Thr254Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.782_*2del r.(?) p.(Leu261Glnfs*50) Maternal (inferred) - pathogenic g.135741570_135741576del g.136659411_136659417del g.11163_11169delTCTGAAC - CD40LG_000004 - - - - Germline - - - 0 - DNA SEQ - - HIGM-1 - - - M no Tunisia - - 0 - - 1 Hanen Ouadani
-?/. 5 c.*505del r.(?) p.(=) Unknown - likely benign g.135742079del g.136659920del - - CD40LG_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend   How to query  

alias TNFSF5