All variants in the PYGM gene

Information The variants shown are described using the NM_005609.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. 7 c.808C>T r.(?) p.(Arg270*) - likely pathogenic g.64522792G>A g.64755320G>A R269X - PYGM_000033 - PubMed: abstract 11749054 - - Unknown - - - - - Gisela Nogales
+/. - c.808C>T r.(?) p.(Arg270Ter) - pathogenic g.64522792G>A g.64755320G>A - - PYGM_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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