| Variant ID | 29825 |
|---|---|
| Entrez Gene ID | 138199 |
| Gene | C9orf41 (GeneCards) |
| Location | hg19 9:77599844-77599844
hg38 9:74984928-74984928 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.77599844 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| EIGEN score | 1.3164 |
| CADD Raw score (version 1.3) | 1.785256 (Deleterious) |
| FATHMM raw prediction score | 0.96655 (Tolerated) |
| Deleterious probability by DeFine | 0.7048 (Deleterious) |
| Entrez Gene ID | 138199 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C9orf41 (GeneCards) |
| Number of variants in CARNMT1 in this database | 4 (view all the variants) |
| Full name | carnosine N-methyltransferase 1 |
| Band | 9q21.13 |
| Other IDs | Vega: OTTHUMG00000020032 OMIM: 616552 HGNC: HGNC:23435 Ensembl: ENSG00000156017 |
| Other names | C9orf41, UPF0586 |
| Summary | The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] |
| Individual ID | 28867142.78 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |