| Variant ID | 105 |
|---|---|
| Entrez Gene ID | 8085 |
| Gene | MLL2 (GeneCards) |
| Location | hg19 12:49432664-49432676
hg38 12:49038881-49038893 |
| Disease | Kabuki syndrome1 (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000012.11:g.49432664_49432676 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | 8463_8475 |
| Changes in cDNA | ACAGGCACAGCA > NA |
| Indel | del13bp |
| mRNA accession | NM_003482.3 |
| mRNA length | 16614 |
| Reference length | 133851895 |
| Deleterious probability by DeFine | 0.8343 (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 | 22901312.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 22901312 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Kabuki syndrome1 (view all the variants in this disease) |
| OMIM ID | 147920 |
| Pubmed ID | 22901312 |
|---|---|
| Title | MLL2 mosaic mutations and intragenic deletion duplications in patients with Kabuki syndrome |
| Journal | Clinical Genetics |
| Publication date | 2013.05 |
| Disease | Kabuki syndrome1 |
| Number of cases | Female cases: 2; |