Variant (rsID / SNP)

rs2228108

rs2228108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAP1, PSMB9. Location: chromosome 6, position 32,821,086. 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: 6:32821086
Cytoband: 6p21.32
HGVS: NM_000593.6(TAP1):c.328C>G (p.Leu110Val)
Allele change: Missense_L170V

Associated conditions / phenotypes

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.