Variant (rsID / SNP)

rs2071888

rs2071888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAPBP. Location: chromosome 6, position 33,272,855. Clinical significance in the table: Benign.

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Reference-table entries

TAPBPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:33272855
Cytoband: 6p21.32
HGVS: NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg)
Allele change: Missense_T260R

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.