Unique variants in the GLDC gene

Information The variants shown are described using the NM_000170.2 transcript reference sequence.

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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

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 14 c.1691G>T r.1691g>u p.Ser564Ile - - pathogenic g.6588417C>A g.6588417C>A FIN major - GLDC_000001 Finnish major GCE mutation: 70% of Finnish GCE patients PubMed: Kure et al. 1992 - rs121964974 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 19 c.2281G>A r.(2281g>a) p.(Gly761Arg) - - likely pathogenic g.6554703C>T g.6554703C>T FIN minor, G761R, HGMD-CM016186 - GLDC_000102 Finnish Minor GCE mutation 1 more item - - SUMMARY record yes - - - - Anne Polvi
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