Overview

Variant ID 23599
Entrez Gene ID 338645
Gene LUZP2 (GeneCards)
Location hg19 11:24541480-24541480
hg38 11:24519934-24519934
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000011.9:g.24541480 A>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 -0.4539
CADD Raw score (version 1.3) -0.378579 (Deleterious)
FATHMM raw prediction score 0.14059 (Tolerated)
Deleterious probability by DeFine 0.6996 (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 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;