All variants in the GYG1 gene

Information The variants shown are described using the NM_004130.3 transcript reference sequence.

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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.248C>T r.(?) p.(Thr83Met) - pathogenic g.148714193C>T g.148996406C>T - - GYG1_000008 197 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606858 Germline - 197/2795 individuals - 0 - Mohammed Faruq
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