Full data view for gene UGGT1

Information The variants shown are described using the NM_020120.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam5PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam6PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam6PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 brother M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam9PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - 3 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam9PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam9PatII3 PubMed: Dardas 2025, Journal: Dardas 2025 sister M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.4636C>T r.(?) p.(Arg1546Ter) Both (homozygous) - pathogenic (recessive) g.128945182C>T g.128187608C>T - - UGGT1_000008 ACMG PVS1_Str, PS3_Mod, PM2, PP1_Str PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam10PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Egypt - - - - - 1 Johan den Dunnen
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