| Variant ID | 19511 |
|---|---|
| Entrez Gene ID | 57496 |
| Gene | MKL2 (GeneCards) |
| Location | hg19 16:14299585-14299585
hg38 16:14205728-14205728 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.14299585 T>C (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1312 |
| CADD Raw score (version 1.3) | 0.040407 (Deleterious) |
| FATHMM raw prediction score | 0.17648 (Tolerated) |
| Deleterious probability by DeFine | 0.5359 (Deleterious) |
| Entrez Gene ID | 57496 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MKL2 (GeneCards) |
| Number of variants in MRTFB in this database | 2 (view all the variants) |
| Full name | myocardin related transcription factor B |
| Band | 16p13.12 |
| Other IDs | Vega: OTTHUMG00000177379 OMIM: 609463 HGNC: HGNC:29819 Ensembl: ENSG00000186260 |
| Other names | MKL2, MRTF-B, NPD001 |
| Summary | None |
| Individual ID | 29217584.10 (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; |