Overview

Variant ID 15874
Entrez Gene ID 338645
Gene LUZP2 (GeneCards)
Location hg19 11:24545778-24545778
hg38 11:24524232-24524232
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.24545778 C>T (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 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1659
CADD Raw score (version 1.3) 0.453603 (Deleterious)
FATHMM raw prediction score 0.13391 (Tolerated)
Deleterious probability by DeFine 0.5283 (Deleterious)
Entrez Gene ID 338645 (NCBI Gene)
Official Gene Symbol LUZP2 (GeneCards)
Number of variants in LUZP2 in this database 30 (view all the variants)
Full name leucine zipper protein 2
Band 11p14.3
Other IDs Vega: OTTHUMG00000166109
OMIM: 608178
HGNC: HGNC:23206
Ensembl: ENSG00000187398
Other names PRO6246, KFSP2566
Summary This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;