PSMA3 (NM_002788.3) sequence variants
(HC8, PSC3)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PSMA3 : 4

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

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

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
intron 5
c.404+2T>C
p.(His111Phefs*10)
p.H111Ffs*10
Not classifiedTo be validated
 2017-05-17
exon 6
c.439G>A
p.(Ala147Thr)
A147T
Uncertain significance (VUS)To be validated
 2019-05-13
exon 9
c.596A>G
p.(Tyr199Cys)
Y199C
Likely pathogenicTo be validated
 2019-05-13
exon 10
c.696_698delAAG
p.(Arg233del)
p.R233del
Not classifiedTo be validated
 2017-05-17