Full data view for gene GYG1

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

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.8-8G>T r.(=) p.(=) Unknown - likely benign g.148711921G>T g.148994134G>T GYG1(NM_001184720.1):c.8-8G>T (p.(=)) - GYG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.137C>G r.(?) p.(Ser46Cys) Unknown - benign g.148712058C>G g.148994271C>G GYG1(NM_004130.3):c.137C>G (p.S46C) - GYG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.143+3G>C r.spl? p.? Unknown - pathogenic g.148712067G>C - - - GYG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143+3G>T r.spl? p.? Unknown - VUS g.148712067G>T - GYG1(NM_004130.3):c.143+3G>T - GYG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248C>T r.(?) p.(Thr83Met) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 197 Mohammed Faruq
?/. - c.304G>C r.(?) p.Asp102His Unknown 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 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
+?/. - c.304G>C r.(?) p.(Asp102His) Unknown - likely pathogenic g.148714249G>C g.148996462G>C - - GYG1_000003 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. - c.304G>C r.(?) p.(Asp102His) Unknown - VUS g.148714249G>C - - - GYG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.305A>T r.(?) p.(Asp102Val) Unknown - likely benign g.148714250A>T g.148996463A>T GYG1(NM_004130.3):c.305A>T (p.D102V) - GYG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.487del r.(?) p.(Asp163ThrfsTer5) Unknown - pathogenic g.148727068del g.149009281del GYG1(NM_004130.3):c.487delG (p.D163Tfs*5) - GYG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.487del r.(?) p.(Asp163Thrfs*5) Unknown - likely pathogenic g.148727068del g.149009281del - - GYG1_000006 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.609G>A r.(?) p.(Val203=) Unknown - likely benign g.148741840G>A g.149024053G>A GYG1(NM_004130.3):c.609G>A (p.V203=) - GYG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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