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

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

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