PSMB8 (NM_148919.3) sequence variants
(beta5i, D6S216E, PSMB5i, RING10)

Editor(s): Hiroaki IDA   Nobuo KANAZAWA   

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Total current number of sequence variants for PSMB8 : 16

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 3c.374A>Cp.(Gln125Pro)PathogenicTo be validated
3UTc.*20G>Cp.?Uncertain significance (VOUS)To be validated
exon 2c.240C>Gp.(Phe80Leu)Uncertain significance (VOUS)To be validated
exon 5c.701A>Gp.(Tyr234Cys)Uncertain significance (VOUS)To be validated
3UTc.*8G>Ap.?Uncertain significance (VOUS)To be validated
exon 2c.271C>Tp.(Arg91Trp)Likely pathogenicTo be validated
exon 2c.280G>Cp.(Ala94Pro)PathogenicTo be validated
exon 3c.313A>Cp.(Lys105Gln)Likely pathogenicTo be validated
exon 2c.274G>Ap.(Ala92Thr)PathogenicTo be validated
exon 1c.22G>Ap.(Gly8Arg)BenignTo be validated
exon 1c.145C>Ap.(Gln49Lys)BenignTo be validated
exon 3c.349A>Gp.(Met117Val)PathogenicTo be validated
exon 2c.220A>Tp.(Thr74Ser)Likely pathogenicTo be validated
exon 3c.405C>Ap.(Cys135*)PathogenicTo be validated
exon 5c.602G>Tp.(Gly201Val)PathogenicTo be validated
exon 2c.224C>Tp.(Thr75Met)PathogenicTo be validated