| Variant ID | 15845 |
|---|---|
| Entrez Gene ID | 23705 |
| Gene | CADM1 (GeneCards) |
| Location | hg19 11:115264746-115264746
hg38 11:115394028-115394028 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.115264746 A>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.251603 (Deleterious) |
| FATHMM raw prediction score | 0.17162 (Tolerated) |
| Deleterious probability by DeFine | 0.6891 (Deleterious) |
| Entrez Gene ID | 23705 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CADM1 (GeneCards) |
| Number of variants in CADM1 in this database | 10 (view all the variants) |
| Full name | cell adhesion molecule 1 |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000168202 OMIM: 605686 HGNC: HGNC:5951 Ensembl: ENSG00000182985 |
| Other names | BL2, ST17, IGSF4, NECL2, RA175, TSLC1, IGSF4A, Necl-2, SYNCAM, sgIGSF, sTSLC-1, synCAM1 |
| Summary | None |
| Individual ID | 29217584.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |