Variant (rsID / SNP)

rs121918660

rs121918660 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD8A. Location: chromosome 2, position 87,017,523. Clinical significance in the table: Pathogenic.

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Reference-table entries

CD8APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:87017523
Cytoband: 2p11.2
HGVS: NM_001768.7(CD8A):c.331G>A (p.Gly111Ser)
Allele change: Missense_G111S

Associated conditions / phenotypes

Susceptibility to respiratory infections associated with CD8alpha chain mutation

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.