| Variant ID | 1410 |
|---|---|
| Entrez Gene ID | 58508 |
| Gene | KMT2C (GeneCards) |
| Location | hg19 7:151836804-151836804
hg38 7:152139719-152139719 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000007.13:g.151836804 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 4806 |
| Amino acid changes in protein | R > G |
| Position in cDNA | 14416 |
| Changes in cDNA | C > G |
| mRNA accession | NM_170606.2 |
| mRNA length | 16872 |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0259 |
| CADD Raw score (version 1.3) | 5.662798 (Deleterious) |
| FATHMM raw prediction score | 0.97522 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.002 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.945 (Deleterious) |
| PROVEAN score | -6.47 (Deleterious) |
| MetaSVM score | -0.767 (Tolerated) |
| MetaLR score | 0.243 (Tolerated) |
| MCAP score | 0.182 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.766 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.522 |
| Deleterious probability by iFish2 | 0.6681 (Deleterious) |
| Deleterious probability by DeFine | 0.933 (Deleterious) |
| Entrez Gene ID | 58508 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KMT2C (GeneCards) |
| Number of variants in KMT2C in this database | 52 (view all the variants) |
| Full name | lysine methyltransferase 2C |
| Band | 7q36.1 |
| Other IDs | Vega: OTTHUMG00000150553 OMIM: 606833 HGNC: HGNC:13726 Ensembl: ENSG00000055609 |
| Other names | HALR, MLL3, KLEFS2 |
| Summary | This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |