Variant (rsID / SNP)

rs138516982

rs138516982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAPBP. Location: chromosome 6, position 33,271,971. Clinical significance in the table: Likely benign.

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Reference-table entries

TAPBPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:33271971
Cytoband: 6p21.32
HGVS: NM_003190.5(TAPBP):c.1234G>A (p.Asp412Asn)
Allele change: Missense_D412N

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.