| Variant ID | 13343 |
|---|---|
| Entrez Gene ID | 138199 |
| Gene | C9orf41 (GeneCards) |
| Location | hg19 9:77652150-77652150
hg38 9:75037234-75037234 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.77652150 G>A (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.0066 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs147233978 |
| EIGEN score | -0.01 |
| CADD Raw score (version 1.3) | 0.195096 (Deleterious) |
| FATHMM raw prediction score | 0.10796 (Tolerated) |
| Deleterious probability by DeFine | 0.4589 (Neutral) |
| 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 | 29217584.11 (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; |