| Variant ID | 24494 |
|---|---|
| Entrez Gene ID | 1379 |
| Gene | CR1L (GeneCards) |
| Location | hg19 1:207820404-207820404
hg38 1:207647059-207647059 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.207820404 T>C (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1174 |
| CADD Raw score (version 1.3) | 0.407846 (Deleterious) |
| FATHMM raw prediction score | 0.18786 (Tolerated) |
| Deleterious probability by DeFine | 0.2159 (Neutral) |
| Entrez Gene ID | 1379 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CR1L (GeneCards) |
| Number of variants in CR1L in this database | 3 (view all the variants) |
| Full name | complement C3b/C4b receptor 1 like |
| Band | 1q32.2 |
| Other IDs | Vega: OTTHUMG00000036354 OMIM: 605886 HGNC: HGNC:2335 Ensembl: ENSG00000197721 |
| Other names | None |
| 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 |