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     
+?/. 1 c.107T>G r.(?) p.(Leu36Arg) - likely pathogenic g.64527264A>C g.64759792A>C - - PYGM_000116 - PubMed: abstract 21802952 - - Unknown - - - - - Gisela Nogales
+?/. - c.107T>G r.(?) p.(Leu36Arg) - likely pathogenic g.64527264A>C g.64759792A>C - - PYGM_000116 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
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