Variant (rsID / SNP)

rs33937946

rs33937946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD247. Location: chromosome 1, position 167,407,858. Clinical significance in the table: Benign.

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Reference-table entries

CD247Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:167407858
Cytoband: 1q24.2
HGVS: NM_198053.3(CD247):c.249C>T (p.Tyr83=)
Allele change: Synonymous_Y83Y

Associated conditions / phenotypes

Immunodeficiency 25

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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