| Variant ID | 12134 |
|---|---|
| Entrez Gene ID | 64478 |
| Gene | CSMD1 (GeneCards) |
| Location | hg19 8:3748054-3748054
hg38 8:3890532-3890532 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.3748054 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.0523 |
| CADD Raw score (version 1.3) | 0.060761 (Deleterious) |
| FATHMM raw prediction score | 0.20311 (Tolerated) |
| Deleterious probability by DeFine | 0.5398 (Deleterious) |
| Entrez Gene ID | 64478 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSMD1 (GeneCards) |
| Number of variants in CSMD1 in this database | 84 (view all the variants) |
| Full name | CUB and Sushi multiple domains 1 |
| Band | 8p23.2 |
| Other IDs | Vega: OTTHUMG00000163605 OMIM: 608397 HGNC: HGNC:14026 Ensembl: ENSG00000183117 |
| Other names | PPP1R24 |
| Summary | None |
| 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; |