Overview

Variant ID 887
Entrez Gene ID 56886
Gene UGGT1 (GeneCards)
Location hg19 2:128917234-128917234
hg38 2:128159660-128159660
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000002.11:g.128917234 C>T (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 834
Amino acid changes in protein A > A
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.4963
CADD Raw score (version 1.3) 2.097766 (Deleterious)
FATHMM raw prediction score 0.97154 (Tolerated)
Deleterious probability by DeFine 0.8763 (Deleterious)
Entrez Gene ID 56886 (NCBI Gene)
Official Gene Symbol UGGT1 (GeneCards)
Number of variants in UGGT1 in this database 2 (view all the variants)
Full name UDP-glucose glycoprotein glucosyltransferase 1
Band 2q14.3
Other IDs Vega: OTTHUMG00000131570
OMIM: 605897
HGNC: HGNC:15663
Ensembl: ENSG00000136731
Other names UGT1, HUGT1, UGCGL1
Summary UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

Individual #1

Individual ID 27788131.02 (view all the variants in this individual)
Pubmed ID 27788131
Whose mosaic mutation Normal  
Phenotype 1  
Disease Human Skin Fibroblasts (view all the variants in this disease)
OMIM ID 120353

Publication #1: 27788131

Pubmed ID 27788131
Title The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.
Journal PLoS Genetics
Publication date 2016.10
Disease Human Skin Fibroblasts
Population Caucasian
Number of cases Male cases: 2;