| Variant ID | 11429 |
|---|---|
| Entrez Gene ID | 767558 |
| Gene | LUZP6 (GeneCards) |
| Location | hg19 7:136144874-136144874
hg38 7:136460126-136460126 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.136144874 G>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1491 |
| CADD Raw score (version 1.3) | 0.371326 (Deleterious) |
| FATHMM raw prediction score | 0.09947 (Tolerated) |
| Deleterious probability by DeFine | 0.368 (Neutral) |
| Entrez Gene ID | 767558 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LUZP6 (GeneCards) |
| Number of variants in LUZP6 in this database | 12 (view all the variants) |
| Full name | leucine zipper protein 6 |
| Band | 7q33 |
| Other IDs | Vega: OTTHUMG00000180445 OMIM: 611050 HGNC: HGNC:33955 Ensembl: ENSG00000267697 |
| Other names | MPD6, MTPNUT |
| Summary | A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3' end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008] |
| 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 |
| 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; |