Variant (rsID / SNP)

rs2071543

rs2071543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSMB8. Location: chromosome 6, position 32,811,629. Clinical significance in the table: Benign.

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Reference-table entries

PSMB8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32811629
Cytoband: 6p21.32
HGVS: NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys)
Allele change: Missense_Q49K

Associated conditions / phenotypes

Proteasome-associated autoinflammatory syndrome 1|Autoinflammatory syndrome

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.