All variants in the PYGM gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 10 c.1094C>T r.(?) p.(Ala365Val) - likely pathogenic g.64521496G>A g.64754024G>A p.A365E - PYGM_000051 - PubMed: abstract 16786513 - - Unknown - - - - - Gisela Nogales
+?/. - c.1094C>T r.(?) p.(Ala365Val) - likely pathogenic g.64521496G>A - PYGM(NM_005609.2):c.1094C>T (p.(Ala365Val)) - PYGM_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1094C>T r.(?) p.(Ala365Val) - likely pathogenic g.64521496G>A - PYGM(NM_005609.2):c.1094C>T (p.(Ala365Val)) - PYGM_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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