Unique variants in the GNPTAB gene

Information The variants shown are described using the NM_024312.4 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+ 1 - c.1212C>G r.(?) p.(Tyr404*) pathogenic g.102163871G>C - GNPTAB_000001 Variome.ir
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