| Variant ID | 26568 |
|---|---|
| Entrez Gene ID | 64478 |
| Gene | CSMD1 (GeneCards) |
| Location | hg19 8:4759548-4759548
hg38 8:4902026-4902026 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000008.10:g.4759548 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0059 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs192279356 |
| EIGEN score | -0.1713 |
| CADD Raw score (version 1.3) | -0.041855 (Deleterious) |
| FATHMM raw prediction score | 0.11272 (Tolerated) |
| Deleterious probability by DeFine | 0.5991 (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 |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |