All variants in the PYGM gene

Information The variants shown are described using the NM_005609.2 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     
+?/. 2 c.247A>T r.(?) p.(Ile83Phe) - likely pathogenic g.64526173T>A g.64758701T>A - - PYGM_000076 - PubMed: abstract 17221871 - - Unknown - - - - - Gisela Nogales
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