Full data view for gene CD3E

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

13 entries on 1 page. Showing entries 1 - 13.
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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.-60+18A>G r.(=) p.(=) Unknown - likely benign g.118175509A>G - CD3E(NM_000733.3):c.-60+18A>G - CD3E_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49+3G>A r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.54C>T r.(?) p.(Gly18=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.54C>T r.(?) p.(Gly18=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.103C>T r.(?) p.(Pro35Ser) Unknown - likely benign g.118182885C>T - CD3E(NM_000733.3):c.103C>T (p.P35S) - CD3E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202G>A r.(?) p.(Gly68Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>C r.(?) p.(Asp71His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>C r.(?) p.(Asp71His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>C r.(?) p.(Asp71His) Unknown - likely benign g.118183440G>C - CD3E(NM_000733.3):c.211G>C (p.D71H) - CD3E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.323C>T r.(?) p.(Ala108Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500G>T r.(?) p.(Gly167Val) Unknown - VUS g.118184569G>T - CD3E(NM_000733.3):c.500G>T (p.G167V) - CD3E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548T>C r.(?) p.(Val183Ala) Unknown - VUS g.118185190T>C - CD3E(NM_000733.3):c.548T>C (p.V183A) - CD3E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*48C>A r.(=) p.(=) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 54 Mohammed Faruq
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