Variant (rsID / SNP)

rs114636648

rs114636648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSMB8. Location: chromosome 6, position 32,809,380. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PSMB8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:32809380
Cytoband: 6p21.32
HGVS: NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)
Allele change: Missense_A224S

Associated conditions / phenotypes

Proteasome-associated autoinflammatory syndrome 1

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.