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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 6c.439G>Ap.(Ala147Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9c.596A>Gp.(Tyr199Cys)Likely pathogenicTo be validated
 2019-05-13
intron 5c.404+2T>Cp.(His111Phefs*10)Not classifiedTo be validated
 2017-05-17
exon 10c.696_698delAAGp.(Arg233del)Not classifiedTo be validated
 2017-05-17