All variants in the GYG1 gene

Information The variants shown are described using the NM_004130.3 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     
?/. - c.304G>C r.(?) p.Asp102His ACMG VUS g.148714249G>C g.148996462G>C - - GYG1_000003 Malfatti ; 2014. Ann Neurol 76: 891 patient with polyglucosan body myopathy heterozygous for c.304G>C and a nonsense (c.749G>A, p.Trp250*) variant (no segregation analysis described); assay of autoglucosylation in vitro suggesting nonfunctional glycogenin-1 - - rs143137713 Germline - - - 0 - Andreas Laner
+?/. - c.304G>C r.(?) p.(Asp102His) - likely pathogenic g.148714249G>C g.148996462G>C - - GYG1_000003 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
?/. - c.304G>C r.(?) p.(Asp102His) - VUS g.148714249G>C - - - GYG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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