All variants in the GYG1 gene

Information The variants shown are described using the NM_004130.3 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     
+/. - c.487del r.(?) p.(Asp163ThrfsTer5) - pathogenic g.148727068del g.149009281del GYG1(NM_004130.3):c.487delG (p.D163Tfs*5) - GYG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.487del r.(?) p.(Asp163Thrfs*5) - likely pathogenic g.148727068del g.149009281del - - GYG1_000006 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
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