| Variant ID | 33464 |
|---|---|
| Entrez Gene ID | 8085 |
| Gene | MLL2 (GeneCards) |
| Location | hg19 12:49420237-49420237
hg38 12:49026454-49026454 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000012.11:g.49420237 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 5171 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | 15512 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 7291970 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7019 |
| CADD Raw score (version 1.3) | 4.26629 (Deleterious) |
| FATHMM raw prediction score | 0.96796 (Tolerated) |
| SIFT score | 0.107 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.93 (Tolerated) |
| PROVEAN score | -3.27 (Deleterious) |
| MetaSVM score | 0.224 (Deleterious) |
| MetaLR score | 0.569 (Deleterious) |
| MCAP score | 0.166 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.232 |
| Deleterious probability by iFish2 | 0.9907 (Deleterious) |
| Deleterious probability by DeFine | 0.9792 (Deleterious) |
| Entrez Gene ID | 8085 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MLL2 (GeneCards) |
| Number of variants in KMT2D in this database | 107 (view all the variants) |
| Full name | lysine methyltransferase 2D |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000166524 OMIM: 602113 HGNC: HGNC:7133 Ensembl: ENSG00000167548 |
| Other names | ALR, KMS, MLL2, MLL4, AAD10, KABUK1, TNRC21, CAGL114 |
| Summary | The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] |
| Individual ID | 25999502.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |