Overview

Variant ID 4468
Entrez Gene ID 56886
Gene UGGT1 (GeneCards)
Location hg19 2:128881859-128881859
hg38 2:128124285-128124285
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000002.11:g.128881859 A>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
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 -0.0736
CADD Raw score (version 1.3) 0.715356 (Deleterious)
FATHMM raw prediction score 0.7146 (Tolerated)
Deleterious probability by DeFine 0.0943 (Neutral)
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 29217584.22 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Xeroderma Pigmentosum (view all the variants in this disease)
OMIM ID 278700

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;