Variant (rsID / SNP)

rs121917702

rs121917702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAP1. Location: chromosome 6, position 32,814,909. Clinical significance in the table: Likely benign.

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Reference-table entries

TAP1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:32814909
Cytoband: 6p21.32
HGVS: NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)
Allele change: Missense_R719Q

Associated conditions / phenotypes

TAP1 deficiency, somatic|MHC class I deficiency

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.