Full data view for gene UGGT1

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

22 entries on 1 page. Showing entries 1 - 22.
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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.381_384del r.(?) p.(Tyr127Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.128865615_128865618del g.128108041_128108044del - - UGGT1_000006 ACMG PVS1, PS3_Mod, PM2 PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam1PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish 5y - - - 1 Johan den Dunnen
+/. - c.978_979del r.(?) p.(Ser327PhefsTer13) Both (homozygous) ACMG pathogenic (recessive) g.128878777_128878778del g.128121203_128121204del - - UGGT1_000007 ACMG PVS1, PM2, PM3_Supp, PP1_Mod PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam3PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Pakistan - 7m - - - 2 Johan den Dunnen
+/. - c.978_979del r.(?) p.(Ser327PhefsTer13) Both (homozygous) ACMG pathogenic (recessive) g.128878777_128878778del g.128121203_128121204del - - UGGT1_000007 ACMG PVS1, PM2, PM3_Supp, PP1_Mod PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam3PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Pakistan - <0d - - - 1 Johan den Dunnen
+?/. - c.1168_1191del r.(?) p.(Asp390_Gly397del) Maternal (confirmed) - likely pathogenic (recessive) g.128884968_128884991del g.128127394_128127417del - - UGGT1_000009 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam1PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Amish 5y - - - 1 Johan den Dunnen
+?/. - c.2132C>T r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.128910473C>T g.128152899C>T - - UGGT1_000004 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam8PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - 8y - - - 2 Johan den Dunnen
+?/. - c.2132C>T r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.128910473C>T g.128152899C>T - - UGGT1_000004 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam8PatII2 PubMed: Dardas 2025, Journal: Dardas 2025 sister F yes Turkey - 7y - - - 1 Johan den Dunnen
+?/. - c.2168T>C r.(?) p.(Phe723Ser) Paternal (confirmed) - likely pathogenic (recessive) g.128913093T>C g.128155519T>C - - UGGT1_000010 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam4PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Europe - - - - 1 Johan den Dunnen
-?/. - c.3025-4C>T r.spl? p.? Unknown - likely benign g.128928775C>T g.128171201C>T UGGT1(NM_020120.3):c.3025-4C>T (p.?) - UGGT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3025-4C>T r.spl? p.? Unknown - VUS g.128928775C>T g.128171201C>T UGGT1(NM_020120.3):c.3025-4C>T (p.?) - UGGT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3364A>T r.(?) p.(Thr1122Ser) Unknown - likely benign g.128931424A>T g.128173850A>T UGGT1(NM_020120.3):c.3364A>T (p.T1122S) - UGGT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3464A>G r.(?) p.(Gln1155Arg) Both (homozygous) - likely pathogenic (recessive) g.128932357A>G g.128174783A>G - - UGGT1_000011 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam2PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Pakistan - - - - - 1 Johan den Dunnen
-/. - c.3563C>T r.(?) p.(Pro1188Leu) Unknown - benign g.128934411C>T g.128176837C>T UGGT1(NM_020120.3):c.3563C>T (p.P1188L, p.(Pro1188Leu)) - UGGT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3563C>T r.(?) p.(Pro1188Leu) Unknown - VUS g.128934411C>T g.128176837C>T UGGT1(NM_020120.3):c.3563C>T (p.P1188L, p.(Pro1188Leu)) - UGGT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3815G>A r.spl? p.? Both (homozygous) - likely pathogenic (recessive) g.128936143G>A g.128178569G>A - - UGGT1_000005 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam7PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.4081dup r.(?) p.(Gln1361ProfsTer27) Maternal (confirmed) - likely pathogenic (recessive) g.128938644dup g.128181070dup 4081dupC - UGGT1_000012 - PubMed: Dardas 2025, Journal: Dardas 2025 - - Germline - - - - - DNA SEQ-NG - - CDG Fam4PatII1 PubMed: Dardas 2025, Journal: Dardas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States Europe - - - - 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 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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