Variant (rsID / SNP)

rs1135216

rs1135216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAP1. Location: chromosome 6, position 32,814,975. Clinical significance in the table: Benign.

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Reference-table entries

TAP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32814975
Cytoband: 6p21.32
HGVS: NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)
Allele change: Missense_D697G

Associated conditions / phenotypes

PEPTIDE TRANSPORTER PSF1 POLYMORPHISM|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.