Unique variants in the CD40 gene

Information The variants shown are described using the NM_001250.4 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     
-/. 2 - c.-1T>C r.(?) p.(=) - benign g.44746982T>C g.46118343T>C CD40(NM_001250.4):c.-1T>C, CD40(NM_001250.6):c.-1T>C - CD40_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 2 - c.57T>A r.(?) p.(His19Gln) - likely benign g.44750464T>A g.46121825T>A CD40(NM_001302753.1):c.57T>A (p.H19Q), CD40(NM_001302753.2):c.57T>A (p.H19Q) - CD40_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 2 c.109T>G r.(?) p.(Cys37Gly) - likely pathogenic g.44750516T>G g.46121877T>G 3534T>G - CD40_000001 - - - - Germline - - - - - Hanen Ouadani
?/. 1 - c.147T>C r.(?) p.(Ser49=) - VUS g.44750888T>C - CD40(NM_001302753.1):c.147T>C (p.S49=) - CD40_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.371C>T r.(?) p.(Ser124Leu) - benign g.44751363C>T g.46122724C>T CD40(NM_001250.4):c.371C>T (p.S124L) - CD40_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.559+36G>C r.(=) p.(=) - benign g.44755376G>C g.46126737G>C CD40(NM_001250.4):c.559+36G>C - CD40_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.606C>T r.(?) p.(Phe202=) - benign g.44756823C>T g.46128184C>T CD40(NM_152854.4):c.544C>T (p.R182W) - CD40_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.679C>G r.(?) p.(Pro227Ala) - likely benign g.44757524C>G g.46128885C>G CD40(NM_001250.4):c.679C>G (p.P227A) - CD40_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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