| Variant ID | 27353 |
|---|---|
| Entrez Gene ID | 338645 |
| Gene | LUZP2 (GeneCards) |
| Location | hg19 11:25226593-25226593
hg38 11:25205047-25205047 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.25226593 C>A (Genome Assembly: GRCh37) |
| 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 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0001 |
| CADD Raw score (version 1.3) | 0.513522 (Deleterious) |
| FATHMM raw prediction score | 0.11627 (Tolerated) |
| Deleterious probability by DeFine | 0.2994 (Neutral) |
| 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 ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |