| Variant ID | 19207 |
|---|---|
| Entrez Gene ID | 4212 |
| Gene | MEIS2 (GeneCards) |
| Location | hg19 15:37849349-37849349
hg38 15:37557148-37557148 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.37849349 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0696 |
| CADD Raw score (version 1.3) | 0.268198 (Deleterious) |
| FATHMM raw prediction score | 0.12 (Tolerated) |
| Deleterious probability by DeFine | 0.413 (Neutral) |
| Entrez Gene ID | 4212 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEIS2 (GeneCards) |
| Number of variants in MEIS2 in this database | 24 (view all the variants) |
| Full name | Meis homeobox 2 |
| Band | 15q14 |
| Other IDs | Vega: OTTHUMG00000129781 OMIM: 601740 HGNC: HGNC:7001 Ensembl: ENSG00000134138 |
| Other names | MRG1, CPCMR, HsT18361 |
| Summary | This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |