| Variant ID | 16901 |
|---|---|
| Entrez Gene ID | 8092 |
| Gene | ALX1 (GeneCards) |
| Location | hg19 12:85724116-85724116
hg38 12:85330338-85330338 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.85724116 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2282 |
| CADD Raw score (version 1.3) | -0.076647 (Deleterious) |
| FATHMM raw prediction score | 0.09582 (Tolerated) |
| Deleterious probability by DeFine | 0.6136 (Deleterious) |
| Entrez Gene ID | 8092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALX1 (GeneCards) |
| Number of variants in ALX1 in this database | 8 (view all the variants) |
| Full name | ALX homeobox 1 |
| Band | 12q21.31 |
| Other IDs | Vega: OTTHUMG00000169820 OMIM: 601527 HGNC: HGNC:1494 Ensembl: ENSG00000180318 |
| Other names | FND3, CART1, HEL23 |
| Summary | The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |