| Variant ID | 10405 |
|---|---|
| Entrez Gene ID | 4223 |
| Gene | MEOX2 (GeneCards) |
| Location | hg19 7:15665140-15665140
hg38 7:15625515-15625515 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.15665140 A>G (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 | 1.0942 |
| CADD Raw score (version 1.3) | 1.031067 (Deleterious) |
| FATHMM raw prediction score | 0.88032 (Tolerated) |
| Deleterious probability by DeFine | 0.9004 (Deleterious) |
| Entrez Gene ID | 4223 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEOX2 (GeneCards) |
| Number of variants in MEOX2 in this database | 1 (view all the variants) |
| Full name | mesenchyme homeobox 2 |
| Band | 7p21.2 |
| Other IDs | Vega: OTTHUMG00000152390 OMIM: 600535 HGNC: HGNC:7014 Ensembl: ENSG00000106511 |
| Other names | GAX, MOX2 |
| Summary | This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |