Unique variants in the CD3E gene

Information The variants shown are described using the NM_000733.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.-60+18A>G r.(=) p.(=) - likely benign g.118175509A>G - CD3E(NM_000733.3):c.-60+18A>G - CD3E_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.49+3G>A r.spl? p.? - likely benign g.118175719G>A g.118305004G>A CD3E(NM_000733.3):c.49+3G>A - CD3E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.54C>T r.(?) p.(Gly18=) - benign g.118178007C>T g.118307292C>T CD3E(NM_000733.3):c.54C>T (p.G18=) - CD3E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.103C>T r.(?) p.(Pro35Ser) - likely benign g.118182885C>T - CD3E(NM_000733.3):c.103C>T (p.P35S) - CD3E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.202G>A r.(?) p.(Gly68Ser) - likely benign g.118183431G>A g.118312716G>A CD3E(NM_000733.3):c.202G>A (p.G68S) - CD3E_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.211G>C r.(?) p.(Asp71His) - likely benign g.118183440G>C g.118312725G>C CD3E(NM_000733.3):c.211G>C (p.D71H) - CD3E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.323C>T r.(?) p.(Ala108Val) - benign g.118183552C>T g.118312837C>T CD3E(NM_000733.3):c.323C>T (p.A108V) - CD3E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.500G>T r.(?) p.(Gly167Val) - VUS g.118184569G>T - CD3E(NM_000733.3):c.500G>T (p.G167V) - CD3E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.548T>C r.(?) p.(Val183Ala) - VUS g.118185190T>C - CD3E(NM_000733.3):c.548T>C (p.V183A) - CD3E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*48C>A r.(=) p.(=) - likely benign g.118186305C>A g.118315590C>A - - CD3E_000005 54 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2231449 Germline - 54/2794 individuals - - - Mohammed Faruq
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