All transcript variants in gene PSMA7

Information The variants shown are described using the NM_002792.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.335C>A r.(?) p.(Ala112Asp) - likely pathogenic g.60714850G>T g.62139794G>T NM_002792.2:c.335C>A (Ala112Asp) - PSMA7_000003 candidate variant PubMed: de Ligt 2012 - - De novo - - - 0 - Johan den Dunnen
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