| Variant ID | 19181 |
|---|---|
| Entrez Gene ID | 23312 |
| Gene | DMXL2 (GeneCards) |
| Location | hg19 15:51897475-51897475
hg38 15:51605278-51605278 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.51897475 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) | 0.0006 |
|---|---|
| EIGEN score | -0.3468 |
| CADD Raw score (version 1.3) | -0.026994 (Deleterious) |
| FATHMM raw prediction score | 0.07032 (Tolerated) |
| Deleterious probability by DeFine | 0.0459 (Neutral) |
| Entrez Gene ID | 23312 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DMXL2 (GeneCards) |
| Number of variants in DMXL2 in this database | 4 (view all the variants) |
| Full name | Dmx like 2 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000131749 OMIM: 612186 HGNC: HGNC:2938 Ensembl: ENSG00000104093 |
| Other names | RC3, PEPNS, DFNA71 |
| Summary | This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.15 (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; |