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Variant (rsID / SNP)

rs140639753

CD3E

rs140639753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD3E. Location: chromosome 11, position 118,184,539. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CD3EConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:118184539
Cytoband
11q23.3
HGVS
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
Allele change
Missense_A157V

Associated conditions / phenotypes

Immunodeficiency 18

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.