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Variant (rsID / SNP)

rs148191859

CD3G

rs148191859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD3G. Location: chromosome 11, position 118,223,146. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CD3GConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:118223146
Cytoband
11q23.3
HGVS
NM_000073.3(CD3G):c.511T>C (p.Tyr171His)
Allele change
Missense_Y171H

Associated conditions / phenotypes

Combined immunodeficiency due to CD3gamma deficiency

Public references

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